Canonical Allele Identifier: CA376717772

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679125T>A (hg19) ; chr10:g.49471079T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471079T>A , CM000672.2:g.49471079T>A	GRCh38
NC_000010.10:g.50679125T>A , CM000672.1:g.50679125T>A	GRCh37
NC_000010.9:g.50349131T>A	NCBI36
NG_009442.1:g.73023A>T , LRG_465:g.73023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2966A>T MANE Select	ENSP00000348089.5:p.Asp989Val
ENST00000679552.1:n.142-190A>T
ENST00000679871.1:n.112A>T
ENST00000679974.1:n.120-190A>T
ENST00000681632.1:n.4369A>T
ENST00000681659.1:c.2807A>T	ENSP00000505631.1:p.Asp936Val
ENST00000355832.9:c.2966A>T	ENSP00000348089.5:p.Asp989Val
ENST00000623073.3:c.*1262A>T	ENSP00000485650.1:n.*1262A>T
ENST00000623115.3:c.1076A>T	ENSP00000485321.1:p.Asp359Val
ENST00000624341.3:c.798A>T
NM_000124.3:c.2966A>T	NP_000115.1:p.Asp989Val
XR_945953.1:n.243-486T>A
NM_001346440.1:c.2966A>T	NP_001333369.1:p.Asp989Val
NM_000124.4:c.2966A>T MANE Select	NP_000115.1:p.Asp989Val
NM_001346440.2:c.2966A>T	NP_001333369.1:p.Asp989Val