Canonical Allele Identifier: CA353560083

Gene: MITF

Linked Data

• gnomAD v4: 3-69965222-A-G
• MyVariant Identifiers: chr3:g.70014373A>G (hg19) ; chr3:g.69965222A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965222A>G , CM000665.2:g.69965222A>G	GRCh38
NC_000003.11:g.70014373A>G , CM000665.1:g.70014373A>G	GRCh37
NC_000003.10:g.70097063A>G	NCBI36
NG_011631.1:g.230741A>G , LRG_776:g.230741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1489A>G	ENSP00000324443.5:p.Met497Val
ENST00000687384.1:c.1486A>G	ENSP00000510225.1:p.Met496Val
ENST00000689390.1:n.1711A>G
ENST00000693031.1:c.1462A>G	ENSP00000509845.1:p.Met488Val
ENST00000693549.1:c.*300A>G	ENSP00000509358.1:n.*300A>G
ENST00000314589.10:c.1489A>G	ENSP00000324443.5:p.Met497Val
ENST00000352241.9:c.1555A>G MANE Select	ENSP00000295600.8:p.Met519Val
ENST00000394351.9:c.1234A>G MANE Plus Clinical	ENSP00000377880.3:p.Met412Val
ENST00000448226.9:c.1534A>G	ENSP00000391803.3:p.Met512Val
ENST00000642352.1:c.1537A>G	ENSP00000494105.1:p.Met513Val
ENST00000314557.10:c.1216A>G	ENSP00000324246.6:p.Met406Val
ENST00000314589.9:c.1489A>G	ENSP00000324443.5:p.Met497Val
ENST00000328528.10:c.1534A>G	ENSP00000327867.6:p.Met512Val
ENST00000352241.8:c.1537A>G	ENSP00000295600.7:p.Met513Val
ENST00000394351.7:c.1234A>G	ENSP00000377880.3:p.Met412Val
ENST00000448226.6:c.1555A>G	ENSP00000391803.2:p.Met519Val
ENST00000472437.5:c.1381A>G	ENSP00000418845.1:p.Met461Val
ENST00000478490.5:c.*881A>G	ENSP00000433487.1:n.*881A>G
ENST00000531774.1:c.1048A>G	ENSP00000435909.1:p.Met350Val
NM_000248.3:c.1234A>G , LRG_776t1:c.1234A>G	NP_000239.1:p.Met412Val
NM_001184967.1:c.1381A>G	NP_001171896.1:p.Met461Val
NM_006722.2:c.1534A>G	NP_006713.1:p.Met512Val
NM_198158.2:c.1216A>G	NP_937801.1:p.Met406Val
NM_198159.2:c.1537A>G	NP_937802.1:p.Met513Val
NM_198177.2:c.1489A>G	NP_937820.1:p.Met497Val
NM_198178.2:c.1048A>G	NP_937821.2:p.Met350Val
XM_005264754.1:c.1555A>G	XP_005264811.1:p.Met519Val
XM_005264755.2:c.1507A>G	XP_005264812.1:p.Met503Val
XM_006713164.2:c.1399A>G	XP_006713227.1:p.Met467Val
XM_011533722.1:c.1552A>G	XP_011532024.1:p.Met518Val
XM_011533723.1:c.1504A>G	XP_011532025.1:p.Met502Val
XM_011533724.1:c.1399A>G	XP_011532026.1:p.Met467Val
XM_011533725.1:c.1387A>G	XP_011532027.1:p.Met463Val
XM_011533726.1:c.1369A>G	XP_011532028.1:p.Met457Val
NM_001354604.1:c.1555A>G	NP_001341533.1:p.Met519Val
NM_001354605.1:c.1552A>G	NP_001341534.1:p.Met518Val
NM_001354606.1:c.1534A>G	NP_001341535.1:p.Met512Val
NM_001354607.1:c.1486A>G	NP_001341536.1:p.Met496Val
NM_001354608.1:c.1381A>G	NP_001341537.1:p.Met461Val
NM_001184967.2:c.1381A>G	NP_001171896.1:p.Met461Val
NM_001354604.2:c.1555A>G MANE Select	NP_001341533.1:p.Met519Val
NM_001354605.2:c.1552A>G	NP_001341534.1:p.Met518Val
NM_001354606.2:c.1534A>G	NP_001341535.1:p.Met512Val
NM_001354607.2:c.1486A>G	NP_001341536.1:p.Met496Val
NM_001354608.2:c.1381A>G	NP_001341537.1:p.Met461Val
NM_198158.3:c.1216A>G	NP_937801.1:p.Met406Val
NM_198159.3:c.1537A>G	NP_937802.1:p.Met513Val
NM_198177.3:c.1489A>G	NP_937820.1:p.Met497Val
NM_198178.3:c.1048A>G	NP_937821.2:p.Met350Val
NM_000248.4:c.1234A>G MANE Plus Clinical	NP_000239.1:p.Met412Val
NM_006722.3:c.1534A>G	NP_006713.1:p.Met512Val