Canonical Allele Identifier: CA2001152288
Community Standard Title: NM_178510.2(ANKK1):c.1469A= (p.His490=)
Gene: ANKK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113399438A= , CM000673.2:g.113399438A= GRCh38
NC_000011.9:g.113270160A= , CM000673.1:g.113270160A= GRCh37
NC_000011.8:g.112775370A= NCBI36
NG_012976.1:g.16648A=

Transcript Alleles

HGVS Amino-acid Change
NM_178510.2:c.1469A= MANE Select NP_848605.1:p.His490=
ENST00000303941.4:c.1469A= MANE Select ENSP00000306678.3:p.His490=
NM_178510.1:c.1469A= NP_848605.1:p.His490=
ENST00000303941.3:c.1469A= ENSP00000306678.3:p.His490=
XM_011542736.1:c.1502A= XP_011541038.1:p.His501=
XM_011542736.2:c.1502A= XP_011541038.1:p.His501=
XM_011542737.1:c.1472A= XP_011541039.1:p.His491=
XM_011542737.2:c.1472A= XP_011541039.1:p.His491=
XM_011542738.1:c.1280A= XP_011541040.1:p.His427=
XM_011542738.2:c.1280A= XP_011541040.1:p.His427=
XM_017017475.1:c.1499A= XP_016872964.1:p.His500=