Canonical Allele Identifier: CA376708411

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669509T>G (hg19) ; chr10:g.49461463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461463T>G , CM000672.2:g.49461463T>G	GRCh38
NC_000010.10:g.50669509T>G , CM000672.1:g.50669509T>G	GRCh37
NC_000010.9:g.50339515T>G	NCBI36
NG_009442.1:g.82639A>C , LRG_465:g.82639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3872A>C MANE Select	ENSP00000348089.5:p.Gln1291Pro
ENST00000679552.1:n.943A>C
ENST00000679871.1:n.1018A>C
ENST00000679974.1:n.921A>C
ENST00000681632.1:n.5275A>C
ENST00000681659.1:c.3713A>C	ENSP00000505631.1:p.Gln1238Pro
ENST00000355832.9:c.3872A>C	ENSP00000348089.5:p.Gln1291Pro
ENST00000465653.1:n.194A>C
ENST00000623073.3:c.*2168A>C	ENSP00000485650.1:n.*2168A>C
ENST00000623115.3:c.1982A>C	ENSP00000485321.1:p.Gln661Pro
ENST00000624341.3:c.1704A>C
NM_000124.3:c.3872A>C	NP_000115.1:p.Gln1291Pro
XR_945953.1:n.243-10102T>G
NM_001346440.1:c.3872A>C	NP_001333369.1:p.Gln1291Pro
NM_000124.4:c.3872A>C MANE Select	NP_000115.1:p.Gln1291Pro
NM_001346440.2:c.3872A>C	NP_001333369.1:p.Gln1291Pro