Canonical Allele Identifier: CA469790836
Gene: ERCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50732780C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524734C>T , CM000672.2:g.49524734C>T GRCh38
NC_000010.10:g.50732780C>T , CM000672.1:g.50732780C>T GRCh37
NC_000010.9:g.50402786C>T NCBI36
NG_009442.1:g.19368G>A , LRG_465:g.19368G>A
NG_033155.1:g.4548G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.696G>A MANE Select ENSP00000348089.5:p.Gln232=
ENST00000447839.7:c.696G>A MANE Plus Clinical ENSP00000387966.2:p.Gln232=
ENST00000679596.1:c.*325G>A ENSP00000504862.1:n.*325G>A
ENST00000679811.1:n.779G>A
ENST00000680107.1:c.652+3683G>A ENSP00000505909.1:n.652+3683G>A
ENST00000680233.1:n.789G>A
ENST00000681632.1:n.774G>A
ENST00000681659.1:c.696G>A ENSP00000505631.1:p.Gln232=
ENST00000355832.9:c.696G>A ENSP00000348089.5:p.Gln232=
ENST00000447839.6:c.696G>A ENSP00000387966.2:p.Gln232=
ENST00000515869.1:c.696G>A ENSP00000423550.1:p.Gln232=
NM_000124.3:c.696G>A NP_000115.1:p.Gln232=
NM_001277058.1:c.696G>A NP_001263987.1:p.Gln232=
NM_001277059.1:c.696G>A NP_001263988.1:p.Gln232=
NM_001346440.1:c.696G>A NP_001333369.1:p.Gln232=
NM_000124.4:c.696G>A MANE Select NP_000115.1:p.Gln232=
NM_001277058.2:c.696G>A MANE Plus Clinical NP_001263987.1:p.Gln232=
NM_001277059.2:c.696G>A NP_001263988.1:p.Gln232=
NM_001346440.2:c.696G>A NP_001333369.1:p.Gln232=