Canonical Allele Identifier: CA376715117

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678600C>A (hg19) ; chr10:g.49470554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470554C>A , CM000672.2:g.49470554C>A	GRCh38
NC_000010.10:g.50678600C>A , CM000672.1:g.50678600C>A	GRCh37
NC_000010.9:g.50348606C>A	NCBI36
NG_009442.1:g.73548G>T , LRG_465:g.73548G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3406G>T MANE Select	ENSP00000348089.5:p.Gly1136Cys
ENST00000679552.1:n.477G>T
ENST00000679871.1:n.552G>T
ENST00000679974.1:n.455G>T
ENST00000681632.1:n.4809G>T
ENST00000681659.1:c.3247G>T	ENSP00000505631.1:p.Gly1083Cys
ENST00000355832.9:c.3406G>T	ENSP00000348089.5:p.Gly1136Cys
ENST00000623073.3:c.*1702G>T	ENSP00000485650.1:n.*1702G>T
ENST00000623115.3:c.1516G>T	ENSP00000485321.1:p.Gly506Cys
ENST00000624341.3:c.1238G>T
NM_000124.3:c.3406G>T	NP_000115.1:p.Gly1136Cys
XR_945953.1:n.243-1011C>A
NM_001346440.1:c.3406G>T	NP_001333369.1:p.Gly1136Cys
NM_000124.4:c.3406G>T MANE Select	NP_000115.1:p.Gly1136Cys
NM_001346440.2:c.3406G>T	NP_001333369.1:p.Gly1136Cys