Canonical Allele Identifier: CA382644378

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399116-G-A
• MyVariant Identifiers: chr11:g.113269838G>A (hg19) ; chr11:g.113399116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399116G>A , CM000673.2:g.113399116G>A	GRCh38
NC_000011.9:g.113269838G>A , CM000673.1:g.113269838G>A	GRCh37
NC_000011.8:g.112775048G>A	NCBI36
NG_012976.1:g.16326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1147G>A MANE Select	ENSP00000306678.3:p.Ala383Thr
ENST00000303941.3:c.1147G>A	ENSP00000306678.3:p.Ala383Thr
NM_178510.1:c.1147G>A	NP_848605.1:p.Ala383Thr
XM_011542736.1:c.1180G>A	XP_011541038.1:p.Ala394Thr
XM_011542737.1:c.1150G>A	XP_011541039.1:p.Ala384Thr
XM_011542738.1:c.958G>A	XP_011541040.1:p.Ala320Thr
XM_011542736.2:c.1180G>A	XP_011541038.1:p.Ala394Thr
XM_011542737.2:c.1150G>A	XP_011541039.1:p.Ala384Thr
XM_011542738.2:c.958G>A	XP_011541040.1:p.Ala320Thr
XM_017017475.1:c.1177G>A	XP_016872964.1:p.Ala393Thr
NM_178510.2:c.1147G>A MANE Select	NP_848605.1:p.Ala383Thr