Canonical Allele Identifier: CA694374827

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1449412099
• gnomAD v3: 13-102846024-C-T
• gnomAD v4: 13-102846024-C-T
• MyVariant Identifiers: chr13:g.103498374C>T (hg19) ; chr13:g.102846024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846024C>T , CM000675.2:g.102846024C>T	GRCh38
NC_000013.10:g.103498374C>T , CM000675.1:g.103498374C>T	GRCh37
NC_000013.9:g.102296375C>T	NCBI36
NG_007146.1:g.5201C>T , LRG_464:g.5201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.120C>T (ERCC5)
ENST00000638434.1:c.363-7733C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3094C>T (BIVM-ERCC5)
ENST00000639132.1:c.764-6094C>T (BIVM-ERCC5)	ENSP00000492684.1:n.764-6094C>T
ENST00000639435.1:c.1451-6094C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6094C>T
ENST00000651002.1:c.-243C>T (ERCC5)	ENSP00000498809.1:n.-243C>T
ENST00000652613.1:c.-740C>T (ERCC5)	ENSP00000498357.1:n.-740C>T
ENST00000355739.8:c.-243C>T (ERCC5)	ENSP00000347978.4:n.-243C>T
ENST00000535557.5:c.-243C>T (ERCC5)	ENSP00000442117.1:n.-243C>T
ENST00000602836.1:c.1365-6094C>T (BIVM-ERCC5)
NM_000123.3:c.-243C>T , LRG_464t1:c.-243C>T (ERCC5)	NP_000114.2:n.-243C>T
NM_001204425.1:c.1451-6094C>T (BIVM-ERCC5)	NP_001191354.1:n.1451-6094C>T
NM_001204425.2:c.1451-6094C>T (BIVM-ERCC5)	NP_001191354.2:n.1451-6094C>T