Canonical Allele Identifier: CA376713483

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678408G>C (hg19) ; chr10:g.49470362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470362G>C , CM000672.2:g.49470362G>C	GRCh38
NC_000010.10:g.50678408G>C , CM000672.1:g.50678408G>C	GRCh37
NC_000010.9:g.50348414G>C	NCBI36
NG_009442.1:g.73740C>G , LRG_465:g.73740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3598C>G MANE Select	ENSP00000348089.5:p.Leu1200Val
ENST00000679552.1:n.669C>G
ENST00000679871.1:n.744C>G
ENST00000679974.1:n.647C>G
ENST00000681632.1:n.5001C>G
ENST00000681659.1:c.3439C>G	ENSP00000505631.1:p.Leu1147Val
ENST00000355832.9:c.3598C>G	ENSP00000348089.5:p.Leu1200Val
ENST00000623073.3:c.*1894C>G	ENSP00000485650.1:n.*1894C>G
ENST00000623115.3:c.1708C>G	ENSP00000485321.1:p.Leu570Val
ENST00000624341.3:c.1430C>G
NM_000124.3:c.3598C>G	NP_000115.1:p.Leu1200Val
XR_945953.1:n.243-1203G>C
NM_001346440.1:c.3598C>G	NP_001333369.1:p.Leu1200Val
NM_000124.4:c.3598C>G MANE Select	NP_000115.1:p.Leu1200Val
NM_001346440.2:c.3598C>G	NP_001333369.1:p.Leu1200Val