Canonical Allele Identifier: CA7041789

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs750643985
• ExAC: 13:103525641 C / T
• gnomAD v2: 13-103525641-C-T
• gnomAD v3: 13-102873291-C-T
• gnomAD v4: 13-102873291-C-T
• MyVariant Identifiers: chr13:g.103525641C>T (hg19) ; chr13:g.102873291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873291C>T , CM000675.2:g.102873291C>T	GRCh38
NC_000013.10:g.103525641C>T , CM000675.1:g.103525641C>T	GRCh37
NC_000013.9:g.102323642C>T	NCBI36
NG_007146.1:g.32468C>T , LRG_464:g.32468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4013C>T (ERCC5)
ENST00000682869.1:n.3561C>T (ERCC5)
ENST00000683246.1:n.4549C>T (ERCC5)
ENST00000683642.1:n.3142C>T (ERCC5)
ENST00000639132.1:c.3587C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1196Met
ENST00000639435.1:c.4274C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1425Met
ENST00000651002.1:c.*2673C>T (ERCC5)	ENSP00000498809.1:n.*2673C>T
ENST00000651055.1:n.3039C>T (ERCC5)
ENST00000651281.1:n.3280C>T (ERCC5)
ENST00000651387.1:n.2396C>T (ERCC5)
ENST00000651470.1:c.*84C>T (ERCC5)	ENSP00000498701.1:n.*84C>T
ENST00000652225.2:c.2912C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Thr971Met
ENST00000652613.1:c.2408C>T (ERCC5)	ENSP00000498357.1:p.Thr803Met
ENST00000355739.8:c.2912C>T (ERCC5)	ENSP00000347978.4:p.Thr971Met
ENST00000375954.1:c.611C>T (ERCC5)	ENSP00000365121.1:p.Thr204Met
ENST00000610537.4:c.2909C>T (ERCC5)	ENSP00000478667.1:p.Thr970Met
NM_000123.3:c.2912C>T , LRG_464t1:c.2912C>T (ERCC5)	NP_000114.2:p.Thr971Met
NM_001204425.1:c.4274C>T (BIVM-ERCC5)	NP_001191354.1:p.Thr1425Met
NM_000123.4:c.2912C>T (ERCC5) MANE Select	NP_000114.3:p.Thr971Met
NM_001204425.2:c.4274C>T (BIVM-ERCC5)	NP_001191354.2:p.Thr1425Met