Canonical Allele Identifier: CA388673574

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1215242798
• MyVariant Identifiers: chr13:g.103525671T>G (hg19) ; chr13:g.102873321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873321T>G , CM000675.2:g.102873321T>G	GRCh38
NC_000013.10:g.103525671T>G , CM000675.1:g.103525671T>G	GRCh37
NC_000013.9:g.102323672T>G	NCBI36
NG_007146.1:g.32498T>G , LRG_464:g.32498T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4043T>G (ERCC5)
ENST00000682869.1:n.3591T>G (ERCC5)
ENST00000683246.1:n.4579T>G (ERCC5)
ENST00000683642.1:n.3172T>G (ERCC5)
ENST00000639132.1:c.3617T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1206Ter
ENST00000639435.1:c.4304T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1435Ter
ENST00000651002.1:c.*2703T>G (ERCC5)	ENSP00000498809.1:n.*2703T>G
ENST00000651055.1:n.3069T>G (ERCC5)
ENST00000651281.1:n.3310T>G (ERCC5)
ENST00000651387.1:n.2426T>G (ERCC5)
ENST00000651470.1:c.*114T>G (ERCC5)	ENSP00000498701.1:n.*114T>G
ENST00000652225.2:c.2942T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Leu981Ter
ENST00000652613.1:c.2438T>G (ERCC5)	ENSP00000498357.1:p.Leu813Ter
ENST00000355739.8:c.2942T>G (ERCC5)	ENSP00000347978.4:p.Leu981Ter
ENST00000375954.1:c.641T>G (ERCC5)	ENSP00000365121.1:p.Leu214Ter
ENST00000610537.4:c.2939T>G (ERCC5)	ENSP00000478667.1:p.Leu980Ter
NM_000123.3:c.2942T>G , LRG_464t1:c.2942T>G (ERCC5)	NP_000114.2:p.Leu981Ter
NM_001204425.1:c.4304T>G (BIVM-ERCC5)	NP_001191354.1:p.Leu1435Ter
NM_000123.4:c.2942T>G (ERCC5) MANE Select	NP_000114.3:p.Leu981Ter
NM_001204425.2:c.4304T>G (BIVM-ERCC5)	NP_001191354.2:p.Leu1435Ter