Canonical Allele Identifier: CA376716264

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678779T>G (hg19) ; chr10:g.49470733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470733T>G , CM000672.2:g.49470733T>G	GRCh38
NC_000010.10:g.50678779T>G , CM000672.1:g.50678779T>G	GRCh37
NC_000010.9:g.50348785T>G	NCBI36
NG_009442.1:g.73369A>C , LRG_465:g.73369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3227A>C MANE Select	ENSP00000348089.5:p.Lys1076Thr
ENST00000679552.1:n.298A>C
ENST00000679871.1:n.373A>C
ENST00000679974.1:n.276A>C
ENST00000681632.1:n.4630A>C
ENST00000681659.1:c.3068A>C	ENSP00000505631.1:p.Lys1023Thr
ENST00000355832.9:c.3227A>C	ENSP00000348089.5:p.Lys1076Thr
ENST00000623073.3:c.*1523A>C	ENSP00000485650.1:n.*1523A>C
ENST00000623115.3:c.1337A>C	ENSP00000485321.1:p.Lys446Thr
ENST00000624341.3:c.1059A>C
NM_000124.3:c.3227A>C	NP_000115.1:p.Lys1076Thr
XR_945953.1:n.243-832T>G
NM_001346440.1:c.3227A>C	NP_001333369.1:p.Lys1076Thr
NM_000124.4:c.3227A>C MANE Select	NP_000115.1:p.Lys1076Thr
NM_001346440.2:c.3227A>C	NP_001333369.1:p.Lys1076Thr