Canonical Allele Identifier: CA376714183

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678492T>G (hg19) ; chr10:g.49470446T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470446T>G , CM000672.2:g.49470446T>G	GRCh38
NC_000010.10:g.50678492T>G , CM000672.1:g.50678492T>G	GRCh37
NC_000010.9:g.50348498T>G	NCBI36
NG_009442.1:g.73656A>C , LRG_465:g.73656A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3514A>C MANE Select	ENSP00000348089.5:p.Lys1172Gln
ENST00000679552.1:n.585A>C
ENST00000679871.1:n.660A>C
ENST00000679974.1:n.563A>C
ENST00000681632.1:n.4917A>C
ENST00000681659.1:c.3355A>C	ENSP00000505631.1:p.Lys1119Gln
ENST00000355832.9:c.3514A>C	ENSP00000348089.5:p.Lys1172Gln
ENST00000623073.3:c.*1810A>C	ENSP00000485650.1:n.*1810A>C
ENST00000623115.3:c.1624A>C	ENSP00000485321.1:p.Lys542Gln
ENST00000624341.3:c.1346A>C
NM_000124.3:c.3514A>C	NP_000115.1:p.Lys1172Gln
XR_945953.1:n.243-1119T>G
NM_001346440.1:c.3514A>C	NP_001333369.1:p.Lys1172Gln
NM_000124.4:c.3514A>C MANE Select	NP_000115.1:p.Lys1172Gln
NM_001346440.2:c.3514A>C	NP_001333369.1:p.Lys1172Gln