Canonical Allele Identifier: CA382644495

Gene: ANKK1

Linked Data

• dbSNP Id: rs1416744326
• gnomAD v2: 11-113269892-A-T
• gnomAD v4: 11-113399170-A-T
• MyVariant Identifiers: chr11:g.113269892A>T (hg19) ; chr11:g.113399170A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399170A>T , CM000673.2:g.113399170A>T	GRCh38
NC_000011.9:g.113269892A>T , CM000673.1:g.113269892A>T	GRCh37
NC_000011.8:g.112775102A>T	NCBI36
NG_012976.1:g.16380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1201A>T MANE Select	ENSP00000306678.3:p.Ile401Phe
ENST00000303941.3:c.1201A>T	ENSP00000306678.3:p.Ile401Phe
NM_178510.1:c.1201A>T	NP_848605.1:p.Ile401Phe
XM_011542736.1:c.1234A>T	XP_011541038.1:p.Ile412Phe
XM_011542737.1:c.1204A>T	XP_011541039.1:p.Ile402Phe
XM_011542738.1:c.1012A>T	XP_011541040.1:p.Ile338Phe
XM_011542736.2:c.1234A>T	XP_011541038.1:p.Ile412Phe
XM_011542737.2:c.1204A>T	XP_011541039.1:p.Ile402Phe
XM_011542738.2:c.1012A>T	XP_011541040.1:p.Ile338Phe
XM_017017475.1:c.1231A>T	XP_016872964.1:p.Ile411Phe
NM_178510.2:c.1201A>T MANE Select	NP_848605.1:p.Ile401Phe