Canonical Allele Identifier: CA7041930

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875896A>C , CM000675.2:g.102875896A>C	GRCh38
NC_000013.10:g.103528246A>C , CM000675.1:g.103528246A>C	GRCh37
NC_000013.9:g.102326247A>C	NCBI36
NG_007146.1:g.35073A>C , LRG_464:g.35073A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.3554A>C (ERCC5) MANE Select	NP_000114.3:p.Lys1185Thr
ENST00000652225.2:c.3554A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1185Thr
NM_000123.3:c.3554A>C , LRG_464t1:c.3554A>C (ERCC5)	NP_000114.2:p.Lys1185Thr
NM_001204425.1:c.4916A>C (BIVM-ERCC5)	NP_001191354.1:p.Lys1639Thr
NM_001204425.2:c.4916A>C (BIVM-ERCC5)	NP_001191354.2:p.Lys1639Thr
ENST00000355739.8:c.3554A>C (ERCC5)	ENSP00000347978.4:p.Lys1185Thr
ENST00000375954.1:c.1253A>C (ERCC5)	ENSP00000365121.1:p.Lys418Thr
ENST00000610537.4:c.3551A>C (ERCC5)	ENSP00000478667.1:p.Lys1184Thr
ENST00000639132.1:c.4229A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1410Thr
ENST00000639435.1:c.4916A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1639Thr
ENST00000651002.1:c.*3315A>C (ERCC5)	ENSP00000498809.1:n.*3315A>C
ENST00000651055.1:n.3681A>C (ERCC5)
ENST00000651281.1:n.3922A>C (ERCC5)
ENST00000652613.1:c.3050A>C (ERCC5)	ENSP00000498357.1:p.Lys1017Thr
ENST00000682632.1:n.4655A>C (ERCC5)
ENST00000682869.1:n.4203A>C (ERCC5)
ENST00000683246.1:n.5191A>C (ERCC5)
ENST00000683642.1:n.3784A>C (ERCC5)