Canonical Allele Identifier: CA612075236

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1432470494
• gnomAD v2: 13-103498332-G-A
• MyVariant Identifiers: chr13:g.103498332G>A (hg19) ; chr13:g.102845982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845982G>A , CM000675.2:g.102845982G>A	GRCh38
NC_000013.10:g.103498332G>A , CM000675.1:g.103498332G>A	GRCh37
NC_000013.9:g.102296333G>A	NCBI36
NG_007146.1:g.5159G>A , LRG_464:g.5159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.78G>A (ERCC5)
ENST00000638434.1:c.363-7775G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3136G>A (BIVM-ERCC5)
ENST00000639132.1:c.764-6136G>A (BIVM-ERCC5)	ENSP00000492684.1:n.764-6136G>A
ENST00000639435.1:c.1451-6136G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6136G>A
ENST00000651002.1:c.-285G>A (ERCC5)	ENSP00000498809.1:n.-285G>A
ENST00000652613.1:c.-782G>A (ERCC5)	ENSP00000498357.1:n.-782G>A
ENST00000355739.8:c.-285G>A (ERCC5)	ENSP00000347978.4:n.-285G>A
ENST00000535557.5:c.-285G>A (ERCC5)	ENSP00000442117.1:n.-285G>A
ENST00000602836.1:c.1365-6136G>A (BIVM-ERCC5)
NM_000123.3:c.-285G>A , LRG_464t1:c.-285G>A (ERCC5)	NP_000114.2:n.-285G>A
NM_001204425.1:c.1451-6136G>A (BIVM-ERCC5)	NP_001191354.1:n.1451-6136G>A
NM_001204425.2:c.1451-6136G>A (BIVM-ERCC5)	NP_001191354.2:n.1451-6136G>A