Canonical Allele Identifier: CA376723724

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49478428T>A , CM000672.2:g.49478428T>A	GRCh38
NC_000010.10:g.50686474T>A , CM000672.1:g.50686474T>A	GRCh37
NC_000010.9:g.50356480T>A	NCBI36
NG_009442.1:g.65674A>T , LRG_465:g.65674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2212A>T MANE Select	ENSP00000348089.5:p.Ile738Leu
ENST00000681632.1:n.2290A>T
ENST00000681659.1:c.2053A>T	ENSP00000505631.1:p.Ile685Leu
ENST00000355832.9:c.2212A>T	ENSP00000348089.5:p.Ile738Leu
ENST00000623073.3:c.*604A>T	ENSP00000485650.1:n.*604A>T
ENST00000623115.3:c.322A>T	ENSP00000485321.1:p.Ile108Leu
NM_000124.3:c.2212A>T	NP_000115.1:p.Ile738Leu
NM_001346440.1:c.2212A>T	NP_001333369.1:p.Ile738Leu
NM_000124.4:c.2212A>T MANE Select	NP_000115.1:p.Ile738Leu
NM_001346440.2:c.2212A>T	NP_001333369.1:p.Ile738Leu