Canonical Allele Identifier: CA469788527

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678361G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470315G>C , CM000672.2:g.49470315G>C	GRCh38
NC_000010.10:g.50678361G>C , CM000672.1:g.50678361G>C	GRCh37
NC_000010.9:g.50348367G>C	NCBI36
NG_009442.1:g.73787C>G , LRG_465:g.73787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3645C>G MANE Select	ENSP00000348089.5:p.Ala1215=
ENST00000679552.1:n.716C>G
ENST00000679871.1:n.791C>G
ENST00000679974.1:n.694C>G
ENST00000681632.1:n.5048C>G
ENST00000681659.1:c.3486C>G	ENSP00000505631.1:p.Ala1162=
ENST00000355832.9:c.3645C>G	ENSP00000348089.5:p.Ala1215=
ENST00000623073.3:c.*1941C>G	ENSP00000485650.1:n.*1941C>G
ENST00000623115.3:c.1755C>G	ENSP00000485321.1:p.Ala585=
ENST00000624341.3:c.1477C>G
NM_000124.3:c.3645C>G	NP_000115.1:p.Ala1215=
XR_945953.1:n.243-1250G>C
NM_001346440.1:c.3645C>G	NP_001333369.1:p.Ala1215=
NM_000124.4:c.3645C>G MANE Select	NP_000115.1:p.Ala1215=
NM_001346440.2:c.3645C>G	NP_001333369.1:p.Ala1215=