Canonical Allele Identifier: CA353559986

Gene: MITF

Linked Data

• gnomAD v4: 3-69965175-T-C
• MyVariant Identifiers: chr3:g.70014326T>C (hg19) ; chr3:g.69965175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965175T>C , CM000665.2:g.69965175T>C	GRCh38
NC_000003.11:g.70014326T>C , CM000665.1:g.70014326T>C	GRCh37
NC_000003.10:g.70097016T>C	NCBI36
NG_011631.1:g.230694T>C , LRG_776:g.230694T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1442T>C	ENSP00000324443.5:p.Val481Ala
ENST00000687384.1:c.1439T>C	ENSP00000510225.1:p.Val480Ala
ENST00000689390.1:n.1664T>C
ENST00000693031.1:c.1415T>C	ENSP00000509845.1:p.Val472Ala
ENST00000693549.1:c.*253T>C	ENSP00000509358.1:n.*253T>C
ENST00000314589.10:c.1442T>C	ENSP00000324443.5:p.Val481Ala
ENST00000352241.9:c.1508T>C MANE Select	ENSP00000295600.8:p.Val503Ala
ENST00000394351.9:c.1187T>C MANE Plus Clinical	ENSP00000377880.3:p.Val396Ala
ENST00000448226.9:c.1487T>C	ENSP00000391803.3:p.Val496Ala
ENST00000642352.1:c.1490T>C	ENSP00000494105.1:p.Val497Ala
ENST00000314557.10:c.1169T>C	ENSP00000324246.6:p.Val390Ala
ENST00000314589.9:c.1442T>C	ENSP00000324443.5:p.Val481Ala
ENST00000328528.10:c.1487T>C	ENSP00000327867.6:p.Val496Ala
ENST00000352241.8:c.1490T>C	ENSP00000295600.7:p.Val497Ala
ENST00000394351.7:c.1187T>C	ENSP00000377880.3:p.Val396Ala
ENST00000448226.6:c.1508T>C	ENSP00000391803.2:p.Val503Ala
ENST00000472437.5:c.1334T>C	ENSP00000418845.1:p.Val445Ala
ENST00000478490.5:c.*834T>C	ENSP00000433487.1:n.*834T>C
ENST00000531774.1:c.1001T>C	ENSP00000435909.1:p.Val334Ala
NM_000248.3:c.1187T>C , LRG_776t1:c.1187T>C	NP_000239.1:p.Val396Ala
NM_001184967.1:c.1334T>C	NP_001171896.1:p.Val445Ala
NM_006722.2:c.1487T>C	NP_006713.1:p.Val496Ala
NM_198158.2:c.1169T>C	NP_937801.1:p.Val390Ala
NM_198159.2:c.1490T>C	NP_937802.1:p.Val497Ala
NM_198177.2:c.1442T>C	NP_937820.1:p.Val481Ala
NM_198178.2:c.1001T>C	NP_937821.2:p.Val334Ala
XM_005264754.1:c.1508T>C	XP_005264811.1:p.Val503Ala
XM_005264755.2:c.1460T>C	XP_005264812.1:p.Val487Ala
XM_006713164.2:c.1352T>C	XP_006713227.1:p.Val451Ala
XM_011533722.1:c.1505T>C	XP_011532024.1:p.Val502Ala
XM_011533723.1:c.1457T>C	XP_011532025.1:p.Val486Ala
XM_011533724.1:c.1352T>C	XP_011532026.1:p.Val451Ala
XM_011533725.1:c.1340T>C	XP_011532027.1:p.Val447Ala
XM_011533726.1:c.1322T>C	XP_011532028.1:p.Val441Ala
NM_001354604.1:c.1508T>C	NP_001341533.1:p.Val503Ala
NM_001354605.1:c.1505T>C	NP_001341534.1:p.Val502Ala
NM_001354606.1:c.1487T>C	NP_001341535.1:p.Val496Ala
NM_001354607.1:c.1439T>C	NP_001341536.1:p.Val480Ala
NM_001354608.1:c.1334T>C	NP_001341537.1:p.Val445Ala
NM_001184967.2:c.1334T>C	NP_001171896.1:p.Val445Ala
NM_001354604.2:c.1508T>C MANE Select	NP_001341533.1:p.Val503Ala
NM_001354605.2:c.1505T>C	NP_001341534.1:p.Val502Ala
NM_001354606.2:c.1487T>C	NP_001341535.1:p.Val496Ala
NM_001354607.2:c.1439T>C	NP_001341536.1:p.Val480Ala
NM_001354608.2:c.1334T>C	NP_001341537.1:p.Val445Ala
NM_198158.3:c.1169T>C	NP_937801.1:p.Val390Ala
NM_198159.3:c.1490T>C	NP_937802.1:p.Val497Ala
NM_198177.3:c.1442T>C	NP_937820.1:p.Val481Ala
NM_198178.3:c.1001T>C	NP_937821.2:p.Val334Ala
NM_000248.4:c.1187T>C MANE Plus Clinical	NP_000239.1:p.Val396Ala
NM_006722.3:c.1487T>C	NP_006713.1:p.Val496Ala