Canonical Allele Identifier: CA484968492

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102862874-T-C
• MyVariant Identifiers: chr13:g.103515224T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862874T>C , CM000675.2:g.102862874T>C	GRCh38
NC_000013.10:g.103515224T>C , CM000675.1:g.103515224T>C	GRCh37
NC_000013.9:g.102313225T>C	NCBI36
NG_007146.1:g.22051T>C , LRG_464:g.22051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1966T>C (ERCC5)
ENST00000682869.1:n.2374T>C (ERCC5)
ENST00000683246.1:n.2502T>C (ERCC5)
ENST00000639132.1:c.2400T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Ser800=
ENST00000639435.1:c.3087T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1029=
ENST00000651002.1:c.*1486T>C (ERCC5)	ENSP00000498809.1:n.*1486T>C
ENST00000651055.1:n.1854T>C (ERCC5)
ENST00000651281.1:n.2093T>C (ERCC5)
ENST00000651387.1:n.1209T>C (ERCC5)
ENST00000651470.1:c.1725T>C (ERCC5)	ENSP00000498701.1:p.Ser575=
ENST00000652225.2:c.1725T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Ser575=
ENST00000652613.1:c.1221T>C (ERCC5)	ENSP00000498357.1:p.Ser407=
ENST00000355739.8:c.1725T>C (ERCC5)	ENSP00000347978.4:p.Ser575=
ENST00000602836.1:c.3001T>C (BIVM-ERCC5)
ENST00000610537.4:c.1725T>C (ERCC5)	ENSP00000478667.1:p.Ser575=
NM_000123.3:c.1725T>C , LRG_464t1:c.1725T>C (ERCC5)	NP_000114.2:p.Ser575=
NM_001204425.1:c.3087T>C (BIVM-ERCC5)	NP_001191354.1:p.Ser1029=
NM_000123.4:c.1725T>C (ERCC5) MANE Select	NP_000114.3:p.Ser575=
NM_001204425.2:c.3087T>C (BIVM-ERCC5)	NP_001191354.2:p.Ser1029=