Canonical Allele Identifier: CA376708276

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669438T>C (hg19) ; chr10:g.49461392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461392T>C , CM000672.2:g.49461392T>C	GRCh38
NC_000010.10:g.50669438T>C , CM000672.1:g.50669438T>C	GRCh37
NC_000010.9:g.50339444T>C	NCBI36
NG_009442.1:g.82710A>G , LRG_465:g.82710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3943A>G MANE Select	ENSP00000348089.5:p.Thr1315Ala
ENST00000679552.1:n.1014A>G
ENST00000679871.1:n.1089A>G
ENST00000679974.1:n.992A>G
ENST00000681632.1:n.5346A>G
ENST00000681659.1:c.3784A>G	ENSP00000505631.1:p.Thr1262Ala
ENST00000355832.9:c.3943A>G	ENSP00000348089.5:p.Thr1315Ala
ENST00000465653.1:n.265A>G
ENST00000623073.3:c.*2239A>G	ENSP00000485650.1:n.*2239A>G
ENST00000623115.3:c.2053A>G	ENSP00000485321.1:p.Thr685Ala
ENST00000624341.3:c.1775A>G
NM_000124.3:c.3943A>G	NP_000115.1:p.Thr1315Ala
XR_945953.1:n.243-10173T>C
NM_001346440.1:c.3943A>G	NP_001333369.1:p.Thr1315Ala
NM_000124.4:c.3943A>G MANE Select	NP_000115.1:p.Thr1315Ala
NM_001346440.2:c.3943A>G	NP_001333369.1:p.Thr1315Ala