Canonical Allele Identifier: CA484859227

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873320-T-C
• MyVariant Identifiers: chr13:g.103525670T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873320T>C , CM000675.2:g.102873320T>C	GRCh38
NC_000013.10:g.103525670T>C , CM000675.1:g.103525670T>C	GRCh37
NC_000013.9:g.102323671T>C	NCBI36
NG_007146.1:g.32497T>C , LRG_464:g.32497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4042T>C (ERCC5)
ENST00000682869.1:n.3590T>C (ERCC5)
ENST00000683246.1:n.4578T>C (ERCC5)
ENST00000683642.1:n.3171T>C (ERCC5)
ENST00000639132.1:c.3616T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1206=
ENST00000639435.1:c.4303T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1435=
ENST00000651002.1:c.*2702T>C (ERCC5)	ENSP00000498809.1:n.*2702T>C
ENST00000651055.1:n.3068T>C (ERCC5)
ENST00000651281.1:n.3309T>C (ERCC5)
ENST00000651387.1:n.2425T>C (ERCC5)
ENST00000651470.1:c.*113T>C (ERCC5)	ENSP00000498701.1:n.*113T>C
ENST00000652225.2:c.2941T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Leu981=
ENST00000652613.1:c.2437T>C (ERCC5)	ENSP00000498357.1:p.Leu813=
ENST00000355739.8:c.2941T>C (ERCC5)	ENSP00000347978.4:p.Leu981=
ENST00000375954.1:c.640T>C (ERCC5)	ENSP00000365121.1:p.Leu214=
ENST00000610537.4:c.2938T>C (ERCC5)	ENSP00000478667.1:p.Leu980=
NM_000123.3:c.2941T>C , LRG_464t1:c.2941T>C (ERCC5)	NP_000114.2:p.Leu981=
NM_001204425.1:c.4303T>C (BIVM-ERCC5)	NP_001191354.1:p.Leu1435=
NM_000123.4:c.2941T>C (ERCC5) MANE Select	NP_000114.3:p.Leu981=
NM_001204425.2:c.4303T>C (BIVM-ERCC5)	NP_001191354.2:p.Leu1435=