Canonical Allele Identifier: CA388674930

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527921G>C (hg19) ; chr13:g.102875571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875571G>C , CM000675.2:g.102875571G>C	GRCh38
NC_000013.10:g.103527921G>C , CM000675.1:g.103527921G>C	GRCh37
NC_000013.9:g.102325922G>C	NCBI36
NG_007146.1:g.34748G>C , LRG_464:g.34748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4330G>C (ERCC5)
ENST00000682869.1:n.3878G>C (ERCC5)
ENST00000683246.1:n.4866G>C (ERCC5)
ENST00000683642.1:n.3459G>C (ERCC5)
ENST00000639132.1:c.3904G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1302His
ENST00000639435.1:c.4591G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1531His
ENST00000651002.1:c.*2990G>C (ERCC5)	ENSP00000498809.1:n.*2990G>C
ENST00000651055.1:n.3356G>C (ERCC5)
ENST00000651281.1:n.3597G>C (ERCC5)
ENST00000651387.1:n.2713G>C (ERCC5)
ENST00000651470.1:c.*401G>C (ERCC5)	ENSP00000498701.1:n.*401G>C
ENST00000652225.2:c.3229G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1077His
ENST00000652613.1:c.2725G>C (ERCC5)	ENSP00000498357.1:p.Asp909His
ENST00000355739.8:c.3229G>C (ERCC5)	ENSP00000347978.4:p.Asp1077His
ENST00000375954.1:c.928G>C (ERCC5)	ENSP00000365121.1:p.Asp310His
ENST00000472247.1:n.389G>C (ERCC5)
ENST00000610537.4:c.3226G>C (ERCC5)	ENSP00000478667.1:p.Asp1076His
NM_000123.3:c.3229G>C , LRG_464t1:c.3229G>C (ERCC5)	NP_000114.2:p.Asp1077His
NM_001204425.1:c.4591G>C (BIVM-ERCC5)	NP_001191354.1:p.Asp1531His
NM_000123.4:c.3229G>C (ERCC5) MANE Select	NP_000114.3:p.Asp1077His
NM_001204425.2:c.4591G>C (BIVM-ERCC5)	NP_001191354.2:p.Asp1531His