Canonical Allele Identifier: CA376717918

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679163T>A (hg19) ; chr10:g.49471117T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471117T>A , CM000672.2:g.49471117T>A	GRCh38
NC_000010.10:g.50679163T>A , CM000672.1:g.50679163T>A	GRCh37
NC_000010.9:g.50349169T>A	NCBI36
NG_009442.1:g.72985A>T , LRG_465:g.72985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2928A>T MANE Select	ENSP00000348089.5:p.Gln976His
ENST00000679552.1:n.142-228A>T
ENST00000679871.1:n.74A>T
ENST00000679974.1:n.120-228A>T
ENST00000681632.1:n.4331A>T
ENST00000681659.1:c.2769A>T	ENSP00000505631.1:p.Gln923His
ENST00000355832.9:c.2928A>T	ENSP00000348089.5:p.Gln976His
ENST00000623073.3:c.*1224A>T	ENSP00000485650.1:n.*1224A>T
ENST00000623115.3:c.1038A>T	ENSP00000485321.1:p.Gln346His
ENST00000624341.3:c.760A>T
NM_000124.3:c.2928A>T	NP_000115.1:p.Gln976His
XR_945953.1:n.243-448T>A
NM_001346440.1:c.2928A>T	NP_001333369.1:p.Gln976His
NM_000124.4:c.2928A>T MANE Select	NP_000115.1:p.Gln976His
NM_001346440.2:c.2928A>T	NP_001333369.1:p.Gln976His