Canonical Allele Identifier: CA388675097

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528002G>T (hg19) ; chr13:g.102875652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875652G>T , CM000675.2:g.102875652G>T	GRCh38
NC_000013.10:g.103528002G>T , CM000675.1:g.103528002G>T	GRCh37
NC_000013.9:g.102326003G>T	NCBI36
NG_007146.1:g.34829G>T , LRG_464:g.34829G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4411G>T (ERCC5)
ENST00000682869.1:n.3959G>T (ERCC5)
ENST00000683246.1:n.4947G>T (ERCC5)
ENST00000683642.1:n.3540G>T (ERCC5)
ENST00000639132.1:c.3985G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1329Tyr
ENST00000639435.1:c.4672G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1558Tyr
ENST00000651002.1:c.*3071G>T (ERCC5)	ENSP00000498809.1:n.*3071G>T
ENST00000651055.1:n.3437G>T (ERCC5)
ENST00000651281.1:n.3678G>T (ERCC5)
ENST00000651387.1:n.2794G>T (ERCC5)
ENST00000651470.1:c.*482G>T (ERCC5)	ENSP00000498701.1:n.*482G>T
ENST00000652225.2:c.3310G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1104Tyr
ENST00000652613.1:c.2806G>T (ERCC5)	ENSP00000498357.1:p.Asp936Tyr
ENST00000355739.8:c.3310G>T (ERCC5)	ENSP00000347978.4:p.Asp1104Tyr
ENST00000375954.1:c.1009G>T (ERCC5)	ENSP00000365121.1:p.Asp337Tyr
ENST00000472247.1:n.470G>T (ERCC5)
ENST00000610537.4:c.3307G>T (ERCC5)	ENSP00000478667.1:p.Asp1103Tyr
NM_000123.3:c.3310G>T , LRG_464t1:c.3310G>T (ERCC5)	NP_000114.2:p.Asp1104Tyr
NM_001204425.1:c.4672G>T (BIVM-ERCC5)	NP_001191354.1:p.Asp1558Tyr
NM_000123.4:c.3310G>T (ERCC5) MANE Select	NP_000114.3:p.Asp1104Tyr
NM_001204425.2:c.4672G>T (BIVM-ERCC5)	NP_001191354.2:p.Asp1558Tyr