Canonical Allele Identifier: CA388675129

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528015C>G (hg19) ; chr13:g.102875665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875665C>G , CM000675.2:g.102875665C>G	GRCh38
NC_000013.10:g.103528015C>G , CM000675.1:g.103528015C>G	GRCh37
NC_000013.9:g.102326016C>G	NCBI36
NG_007146.1:g.34842C>G , LRG_464:g.34842C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4424C>G (ERCC5)
ENST00000682869.1:n.3972C>G (ERCC5)
ENST00000683246.1:n.4960C>G (ERCC5)
ENST00000683642.1:n.3553C>G (ERCC5)
ENST00000639132.1:c.3998C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1333Ter
ENST00000639435.1:c.4685C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1562Ter
ENST00000651002.1:c.*3084C>G (ERCC5)	ENSP00000498809.1:n.*3084C>G
ENST00000651055.1:n.3450C>G (ERCC5)
ENST00000651281.1:n.3691C>G (ERCC5)
ENST00000651387.1:n.2807C>G (ERCC5)
ENST00000651470.1:c.*495C>G (ERCC5)	ENSP00000498701.1:n.*495C>G
ENST00000652225.2:c.3323C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1108Ter
ENST00000652613.1:c.2819C>G (ERCC5)	ENSP00000498357.1:p.Ser940Ter
ENST00000355739.8:c.3323C>G (ERCC5)	ENSP00000347978.4:p.Ser1108Ter
ENST00000375954.1:c.1022C>G (ERCC5)	ENSP00000365121.1:p.Ser341Ter
ENST00000472247.1:n.483C>G (ERCC5)
ENST00000610537.4:c.3320C>G (ERCC5)	ENSP00000478667.1:p.Ser1107Ter
NM_000123.3:c.3323C>G , LRG_464t1:c.3323C>G (ERCC5)	NP_000114.2:p.Ser1108Ter
NM_001204425.1:c.4685C>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1562Ter
NM_000123.4:c.3323C>G (ERCC5) MANE Select	NP_000114.3:p.Ser1108Ter
NM_001204425.2:c.4685C>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1562Ter