Canonical Allele Identifier: CA376716838

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678869G>T (hg19) ; chr10:g.49470823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470823G>T , CM000672.2:g.49470823G>T	GRCh38
NC_000010.10:g.50678869G>T , CM000672.1:g.50678869G>T	GRCh37
NC_000010.9:g.50348875G>T	NCBI36
NG_009442.1:g.73279C>A , LRG_465:g.73279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3137C>A MANE Select	ENSP00000348089.5:p.Ala1046Glu
ENST00000679552.1:n.208C>A
ENST00000679871.1:n.283C>A
ENST00000679974.1:n.186C>A
ENST00000681632.1:n.4540C>A
ENST00000681659.1:c.2978C>A	ENSP00000505631.1:p.Ala993Glu
ENST00000355832.9:c.3137C>A	ENSP00000348089.5:p.Ala1046Glu
ENST00000623073.3:c.*1433C>A	ENSP00000485650.1:n.*1433C>A
ENST00000623115.3:c.1247C>A	ENSP00000485321.1:p.Ala416Glu
ENST00000624341.3:c.969C>A
NM_000124.3:c.3137C>A	NP_000115.1:p.Ala1046Glu
XR_945953.1:n.243-742G>T
NM_001346440.1:c.3137C>A	NP_001333369.1:p.Ala1046Glu
NM_000124.4:c.3137C>A MANE Select	NP_000115.1:p.Ala1046Glu
NM_001346440.2:c.3137C>A	NP_001333369.1:p.Ala1046Glu