Canonical Allele Identifier: CA1908745527
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461514C= , CM000672.2:g.49461514C= GRCh38
NC_000010.10:g.50669560C= , CM000672.1:g.50669560C= GRCh37
NC_000010.9:g.50339566C= NCBI36
NG_009442.1:g.82588G= , LRG_465:g.82588G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3821G= MANE Select ENSP00000348089.5:p.Gly1274=
ENST00000679552.1:n.892G=
ENST00000679871.1:n.967G=
ENST00000679974.1:n.870G=
ENST00000681632.1:n.5224G=
ENST00000681659.1:c.3662G= ENSP00000505631.1:p.Gly1221=
ENST00000355832.9:c.3821G= ENSP00000348089.5:p.Gly1274=
ENST00000465653.1:n.143G=
ENST00000623073.3:c.*2117G= ENSP00000485650.1:n.*2117G=
ENST00000623115.3:c.1931G= ENSP00000485321.1:p.Gly644=
ENST00000624341.3:c.1653G=
NM_000124.3:c.3821G= NP_000115.1:p.Gly1274=
XR_945953.1:n.243-10051C=
NM_001346440.1:c.3821G= NP_001333369.1:p.Gly1274=
NM_000124.4:c.3821G= MANE Select NP_000115.1:p.Gly1274=
NM_001346440.2:c.3821G= NP_001333369.1:p.Gly1274=