Canonical Allele Identifier: CA1049251122

Gene: MITF

Linked Data

• dbSNP Id: rs2066477995
• gnomAD v3: 3-69959213-T-C
• gnomAD v4: 3-69959213-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959213T>C , CM000665.2:g.69959213T>C	GRCh38
NC_000003.11:g.70008364T>C , CM000665.1:g.70008364T>C	GRCh37
NC_000003.10:g.70091054T>C	NCBI36
NG_011631.1:g.224732T>C , LRG_776:g.224732T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.966-60T>C	ENSP00000324443.5:n.966-60T>C
ENST00000687384.1:c.963-60T>C	ENSP00000510225.1:n.963-60T>C
ENST00000689390.1:n.1188-60T>C
ENST00000693031.1:c.939-60T>C	ENSP00000509845.1:n.939-60T>C
ENST00000693549.1:c.966-60T>C	ENSP00000509358.1:n.966-60T>C
ENST00000314589.10:c.966-60T>C	ENSP00000324443.5:n.966-60T>C
ENST00000352241.9:c.1032-60T>C MANE Select	ENSP00000295600.8:n.1032-60T>C
ENST00000394351.9:c.711-60T>C MANE Plus Clinical	ENSP00000377880.3:n.711-60T>C
ENST00000448226.9:c.1011-60T>C	ENSP00000391803.3:n.1011-60T>C
ENST00000642352.1:c.1014-60T>C	ENSP00000494105.1:n.1014-60T>C
ENST00000314557.10:c.693-60T>C	ENSP00000324246.6:n.693-60T>C
ENST00000314589.9:c.966-60T>C	ENSP00000324443.5:n.966-60T>C
ENST00000328528.10:c.1011-60T>C	ENSP00000327867.6:n.1011-60T>C
ENST00000352241.8:c.1014-60T>C	ENSP00000295600.7:n.1014-60T>C
ENST00000394351.7:c.711-60T>C	ENSP00000377880.3:n.711-60T>C
ENST00000448226.6:c.1032-60T>C	ENSP00000391803.2:n.1032-60T>C
ENST00000451708.5:c.984-60T>C	ENSP00000398639.1:n.984-60T>C
ENST00000472437.5:c.858-60T>C	ENSP00000418845.1:n.858-60T>C
ENST00000478490.5:c.*358-60T>C	ENSP00000433487.1:n.*358-60T>C
ENST00000531774.1:c.525-60T>C	ENSP00000435909.1:n.525-60T>C
NM_000248.3:c.711-60T>C , LRG_776t1:c.711-60T>C	NP_000239.1:n.711-60T>C
NM_001184967.1:c.858-60T>C	NP_001171896.1:n.858-60T>C
NM_006722.2:c.1011-60T>C	NP_006713.1:n.1011-60T>C
NM_198158.2:c.693-60T>C	NP_937801.1:n.693-60T>C
NM_198159.2:c.1014-60T>C	NP_937802.1:n.1014-60T>C
NM_198177.2:c.966-60T>C	NP_937820.1:n.966-60T>C
NM_198178.2:c.525-60T>C	NP_937821.2:n.525-60T>C
XM_005264754.1:c.1032-60T>C	XP_005264811.1:n.1032-60T>C
XM_005264755.2:c.984-60T>C	XP_005264812.1:n.984-60T>C
XM_006713164.2:c.876-60T>C	XP_006713227.1:n.876-60T>C
XM_011533722.1:c.1029-60T>C	XP_011532024.1:n.1029-60T>C
XM_011533723.1:c.981-60T>C	XP_011532025.1:n.981-60T>C
XM_011533724.1:c.876-60T>C	XP_011532026.1:n.876-60T>C
XM_011533725.1:c.864-60T>C	XP_011532027.1:n.864-60T>C
XM_011533726.1:c.846-60T>C	XP_011532028.1:n.846-60T>C
NM_001354604.1:c.1032-60T>C	NP_001341533.1:n.1032-60T>C
NM_001354605.1:c.1029-60T>C	NP_001341534.1:n.1029-60T>C
NM_001354606.1:c.1011-60T>C	NP_001341535.1:n.1011-60T>C
NM_001354607.1:c.963-60T>C	NP_001341536.1:n.963-60T>C
NM_001354608.1:c.858-60T>C	NP_001341537.1:n.858-60T>C
NM_001184967.2:c.858-60T>C	NP_001171896.1:n.858-60T>C
NM_001354604.2:c.1032-60T>C MANE Select	NP_001341533.1:n.1032-60T>C
NM_001354605.2:c.1029-60T>C	NP_001341534.1:n.1029-60T>C
NM_001354606.2:c.1011-60T>C	NP_001341535.1:n.1011-60T>C
NM_001354607.2:c.963-60T>C	NP_001341536.1:n.963-60T>C
NM_001354608.2:c.858-60T>C	NP_001341537.1:n.858-60T>C
NM_198158.3:c.693-60T>C	NP_937801.1:n.693-60T>C
NM_198159.3:c.1014-60T>C	NP_937802.1:n.1014-60T>C
NM_198177.3:c.966-60T>C	NP_937820.1:n.966-60T>C
NM_198178.3:c.525-60T>C	NP_937821.2:n.525-60T>C
NM_000248.4:c.711-60T>C MANE Plus Clinical	NP_000239.1:n.711-60T>C
NM_006722.3:c.1011-60T>C	NP_006713.1:n.1011-60T>C