Canonical Allele Identifier: CA2115215351
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4043T= (ERCC5)
ENST00000682869.1:n.3591T= (ERCC5)
ENST00000683246.1:n.4579T= (ERCC5)
ENST00000683642.1:n.3172T= (ERCC5)
ENST00000639132.1:c.3617T= (BIVM-ERCC5) ENSP00000492684.1:p.Leu1206=
ENST00000639435.1:c.4304T= (BIVM-ERCC5) ENSP00000491742.1:p.Leu1435=
ENST00000651002.1:c.*2703T= (ERCC5) ENSP00000498809.1:n.*2703T=
ENST00000651055.1:n.3069T= (ERCC5)
ENST00000651281.1:n.3310T= (ERCC5)
ENST00000651387.1:n.2426T= (ERCC5)
ENST00000651470.1:c.*114T= (ERCC5) ENSP00000498701.1:n.*114T=
ENST00000652225.2:c.2942T= (ERCC5) MANE Select ENSP00000498881.2:p.Leu981=
ENST00000652613.1:c.2438T= (ERCC5) ENSP00000498357.1:p.Leu813=
ENST00000355739.8:c.2942T= (ERCC5) ENSP00000347978.4:p.Leu981=
ENST00000375954.1:c.641T= (ERCC5) ENSP00000365121.1:p.Leu214=
ENST00000610537.4:c.2939T= (ERCC5) ENSP00000478667.1:p.Leu980=
NM_000123.3:c.2942T= , LRG_464t1:c.2942T= (ERCC5) NP_000114.2:p.Leu981=
NM_001204425.1:c.4304T= (BIVM-ERCC5) NP_001191354.1:p.Leu1435=
NM_000123.4:c.2942T= (ERCC5) MANE Select NP_000114.3:p.Leu981=
NM_001204425.2:c.4304T= (BIVM-ERCC5) NP_001191354.2:p.Leu1435=