Canonical Allele Identifier: CA360626027

Gene: MCC

Linked Data

• dbSNP Id: rs1580965136
• gnomAD v4: 5-113063993-C-A
• MyVariant Identifiers: chr5:g.112399690C>A (hg19) ; chr5:g.113063993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113063993C>A , CM000667.2:g.113063993C>A	GRCh38
NC_000005.9:g.112399690C>A , CM000667.1:g.112399690C>A	GRCh37
NC_000005.8:g.112427589C>A	NCBI36
NG_012265.1:g.429838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1634G>T	ENSP00000305617.4:p.Ser545Ile
ENST00000408903.7:c.2204G>T MANE Select	ENSP00000386227.3:p.Ser735Ile
ENST00000302475.8:c.1634G>T	ENSP00000305617.4:p.Ser545Ile
ENST00000408903.6:c.2204G>T	ENSP00000386227.3:p.Ser735Ile
ENST00000514701.5:c.1634G>T	ENSP00000485220.1:p.Ser545Ile
ENST00000515367.6:c.1445G>T	ENSP00000421615.2:p.Ser482Ile
ENST00000624689.3:c.48G>T
NM_001085377.1:c.2204G>T	NP_001078846.1:p.Ser735Ile
NM_002387.2:c.1634G>T	NP_002378.1:p.Ser545Ile
XM_005271991.2:c.1634G>T	XP_005272048.1:p.Ser545Ile
XM_005271991.3:c.1634G>T	XP_005272048.1:p.Ser545Ile
XM_017009473.1:c.2204G>T	XP_016864962.1:p.Ser735Ile
XM_017009474.1:c.1604G>T	XP_016864963.1:p.Ser535Ile
XM_024446049.1:c.1445G>T	XP_024301817.1:p.Ser482Ile
XM_024446050.1:c.1445G>T	XP_024301818.1:p.Ser482Ile
XM_024446051.1:c.1445G>T	XP_024301819.1:p.Ser482Ile
XM_024446052.1:c.1445G>T	XP_024301820.1:p.Ser482Ile
NM_001085377.2:c.2204G>T MANE Select	NP_001078846.2:p.Ser735Ile
NM_002387.3:c.1634G>T	NP_002378.2:p.Ser545Ile