Canonical Allele Identifier: CA469788664

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678406C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470360C>T , CM000672.2:g.49470360C>T	GRCh38
NC_000010.10:g.50678406C>T , CM000672.1:g.50678406C>T	GRCh37
NC_000010.9:g.50348412C>T	NCBI36
NG_009442.1:g.73742G>A , LRG_465:g.73742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3600G>A MANE Select	ENSP00000348089.5:p.Leu1200=
ENST00000679552.1:n.671G>A
ENST00000679871.1:n.746G>A
ENST00000679974.1:n.649G>A
ENST00000681632.1:n.5003G>A
ENST00000681659.1:c.3441G>A	ENSP00000505631.1:p.Leu1147=
ENST00000355832.9:c.3600G>A	ENSP00000348089.5:p.Leu1200=
ENST00000623073.3:c.*1896G>A	ENSP00000485650.1:n.*1896G>A
ENST00000623115.3:c.1710G>A	ENSP00000485321.1:p.Leu570=
ENST00000624341.3:c.1432G>A
NM_000124.3:c.3600G>A	NP_000115.1:p.Leu1200=
XR_945953.1:n.243-1205C>T
NM_001346440.1:c.3600G>A	NP_001333369.1:p.Leu1200=
NM_000124.4:c.3600G>A MANE Select	NP_000115.1:p.Leu1200=
NM_001346440.2:c.3600G>A	NP_001333369.1:p.Leu1200=