Canonical Allele Identifier: CA388675073

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543656
• MyVariant Identifiers: chr13:g.103527991C>A (hg19) ; chr13:g.102875641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875641C>A , CM000675.2:g.102875641C>A	GRCh38
NC_000013.10:g.103527991C>A , CM000675.1:g.103527991C>A	GRCh37
NC_000013.9:g.102325992C>A	NCBI36
NG_007146.1:g.34818C>A , LRG_464:g.34818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4400C>A (ERCC5)
ENST00000682869.1:n.3948C>A (ERCC5)
ENST00000683246.1:n.4936C>A (ERCC5)
ENST00000683642.1:n.3529C>A (ERCC5)
ENST00000639132.1:c.3974C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1325Tyr
ENST00000639435.1:c.4661C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1554Tyr
ENST00000651002.1:c.*3060C>A (ERCC5)	ENSP00000498809.1:n.*3060C>A
ENST00000651055.1:n.3426C>A (ERCC5)
ENST00000651281.1:n.3667C>A (ERCC5)
ENST00000651387.1:n.2783C>A (ERCC5)
ENST00000651470.1:c.*471C>A (ERCC5)	ENSP00000498701.1:n.*471C>A
ENST00000652225.2:c.3299C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1100Tyr
ENST00000652613.1:c.2795C>A (ERCC5)	ENSP00000498357.1:p.Ser932Tyr
ENST00000355739.8:c.3299C>A (ERCC5)	ENSP00000347978.4:p.Ser1100Tyr
ENST00000375954.1:c.998C>A (ERCC5)	ENSP00000365121.1:p.Ser333Tyr
ENST00000472247.1:n.459C>A (ERCC5)
ENST00000610537.4:c.3296C>A (ERCC5)	ENSP00000478667.1:p.Ser1099Tyr
NM_000123.3:c.3299C>A , LRG_464t1:c.3299C>A (ERCC5)	NP_000114.2:p.Ser1100Tyr
NM_001204425.1:c.4661C>A (BIVM-ERCC5)	NP_001191354.1:p.Ser1554Tyr
NM_000123.4:c.3299C>A (ERCC5) MANE Select	NP_000114.3:p.Ser1100Tyr
NM_001204425.2:c.4661C>A (BIVM-ERCC5)	NP_001191354.2:p.Ser1554Tyr