Canonical Allele Identifier: CA2001153602
Community Standard Title: NM_178510.2(ANKK1):c.2137G= (p.Glu713=)
Gene: ANKK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113400106G= , CM000673.2:g.113400106G= GRCh38
NC_000011.9:g.113270828G= , CM000673.1:g.113270828G= GRCh37
NC_000011.8:g.112776038G= NCBI36
NG_012976.1:g.17316G=

Transcript Alleles

HGVS Amino-acid Change
NM_178510.2:c.2137G= MANE Select NP_848605.1:p.Glu713=
ENST00000303941.4:c.2137G= MANE Select ENSP00000306678.3:p.Glu713=
NM_178510.1:c.2137G= NP_848605.1:p.Glu713=
ENST00000303941.3:c.2137G= ENSP00000306678.3:p.Glu713=
XM_011542736.1:c.2170G= XP_011541038.1:p.Glu724=
XM_011542736.2:c.2170G= XP_011541038.1:p.Glu724=
XM_011542737.1:c.2140G= XP_011541039.1:p.Glu714=
XM_011542737.2:c.2140G= XP_011541039.1:p.Glu714=
XM_011542738.1:c.1948G= XP_011541040.1:p.Glu650=
XM_011542738.2:c.1948G= XP_011541040.1:p.Glu650=
XM_017017475.1:c.2167G= XP_016872964.1:p.Glu723=