Canonical Allele Identifier: CA484968439

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1882692153
• MyVariant Identifiers: chr13:g.103515191T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862841T>C , CM000675.2:g.102862841T>C	GRCh38
NC_000013.10:g.103515191T>C , CM000675.1:g.103515191T>C	GRCh37
NC_000013.9:g.102313192T>C	NCBI36
NG_007146.1:g.22018T>C , LRG_464:g.22018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1933T>C (ERCC5)
ENST00000682869.1:n.2341T>C (ERCC5)
ENST00000683246.1:n.2469T>C (ERCC5)
ENST00000639132.1:c.2367T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Asp789=
ENST00000639435.1:c.3054T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1018=
ENST00000651002.1:c.*1453T>C (ERCC5)	ENSP00000498809.1:n.*1453T>C
ENST00000651055.1:n.1821T>C (ERCC5)
ENST00000651281.1:n.2060T>C (ERCC5)
ENST00000651387.1:n.1176T>C (ERCC5)
ENST00000651470.1:c.1692T>C (ERCC5)	ENSP00000498701.1:p.Asp564=
ENST00000652225.2:c.1692T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Asp564=
ENST00000652613.1:c.1188T>C (ERCC5)	ENSP00000498357.1:p.Asp396=
ENST00000355739.8:c.1692T>C (ERCC5)	ENSP00000347978.4:p.Asp564=
ENST00000602836.1:c.2968T>C (BIVM-ERCC5)
ENST00000610537.4:c.1692T>C (ERCC5)	ENSP00000478667.1:p.Asp564=
NM_000123.3:c.1692T>C , LRG_464t1:c.1692T>C (ERCC5)	NP_000114.2:p.Asp564=
NM_001204425.1:c.3054T>C (BIVM-ERCC5)	NP_001191354.1:p.Asp1018=
NM_000123.4:c.1692T>C (ERCC5) MANE Select	NP_000114.3:p.Asp564=
NM_001204425.2:c.3054T>C (BIVM-ERCC5)	NP_001191354.2:p.Asp1018=