Canonical Allele Identifier: CA388574375

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1595383704
• COSMIC: COSM6198963
• MyVariant Identifiers: chr13:g.103515286C>T (hg19) ; chr13:g.102862936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862936C>T , CM000675.2:g.102862936C>T	GRCh38
NC_000013.10:g.103515286C>T , CM000675.1:g.103515286C>T	GRCh37
NC_000013.9:g.102313287C>T	NCBI36
NG_007146.1:g.22113C>T , LRG_464:g.22113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2028C>T (ERCC5)
ENST00000682869.1:n.2436C>T (ERCC5)
ENST00000683246.1:n.2564C>T (ERCC5)
ENST00000639132.1:c.2462C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ala821Val
ENST00000639435.1:c.3149C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1050Val
ENST00000651002.1:c.*1548C>T (ERCC5)	ENSP00000498809.1:n.*1548C>T
ENST00000651055.1:n.1916C>T (ERCC5)
ENST00000651281.1:n.2155C>T (ERCC5)
ENST00000651387.1:n.1271C>T (ERCC5)
ENST00000651470.1:c.1787C>T (ERCC5)	ENSP00000498701.1:p.Ala596Val
ENST00000652225.2:c.1787C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ala596Val
ENST00000652613.1:c.1283C>T (ERCC5)	ENSP00000498357.1:p.Ala428Val
ENST00000355739.8:c.1787C>T (ERCC5)	ENSP00000347978.4:p.Ala596Val
ENST00000602836.1:c.3063C>T (BIVM-ERCC5)
ENST00000610537.4:c.1787C>T (ERCC5)	ENSP00000478667.1:p.Ala596Val
NM_000123.3:c.1787C>T , LRG_464t1:c.1787C>T (ERCC5)	NP_000114.2:p.Ala596Val
NM_001204425.1:c.3149C>T (BIVM-ERCC5)	NP_001191354.1:p.Ala1050Val
NM_000123.4:c.1787C>T (ERCC5) MANE Select	NP_000114.3:p.Ala596Val
NM_001204425.2:c.3149C>T (BIVM-ERCC5)	NP_001191354.2:p.Ala1050Val