Canonical Allele Identifier: CA376712814

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678310C>A (hg19) ; chr10:g.49470264C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470264C>A , CM000672.2:g.49470264C>A	GRCh38
NC_000010.10:g.50678310C>A , CM000672.1:g.50678310C>A	GRCh37
NC_000010.9:g.50348316C>A	NCBI36
NG_009442.1:g.73838G>T , LRG_465:g.73838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3696G>T MANE Select	ENSP00000348089.5:p.Gln1232His
ENST00000679552.1:n.767G>T
ENST00000679871.1:n.842G>T
ENST00000679974.1:n.745G>T
ENST00000681632.1:n.5099G>T
ENST00000681659.1:c.3537G>T	ENSP00000505631.1:p.Gln1179His
ENST00000355832.9:c.3696G>T	ENSP00000348089.5:p.Gln1232His
ENST00000465653.1:n.18G>T
ENST00000623073.3:c.*1992G>T	ENSP00000485650.1:n.*1992G>T
ENST00000623115.3:c.1806G>T	ENSP00000485321.1:p.Gln602His
ENST00000624341.3:c.1528G>T
NM_000124.3:c.3696G>T	NP_000115.1:p.Gln1232His
XR_945953.1:n.243-1301C>A
NM_001346440.1:c.3696G>T	NP_001333369.1:p.Gln1232His
NM_000124.4:c.3696G>T MANE Select	NP_000115.1:p.Gln1232His
NM_001346440.2:c.3696G>T	NP_001333369.1:p.Gln1232His