Canonical Allele Identifier: CA382644806

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399296-A-G
• MyVariant Identifiers: chr11:g.113270018A>G (hg19) ; chr11:g.113399296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399296A>G , CM000673.2:g.113399296A>G	GRCh38
NC_000011.9:g.113270018A>G , CM000673.1:g.113270018A>G	GRCh37
NC_000011.8:g.112775228A>G	NCBI36
NG_012976.1:g.16506A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1327A>G MANE Select	ENSP00000306678.3:p.Thr443Ala
ENST00000303941.3:c.1327A>G	ENSP00000306678.3:p.Thr443Ala
NM_178510.1:c.1327A>G	NP_848605.1:p.Thr443Ala
XM_011542736.1:c.1360A>G	XP_011541038.1:p.Thr454Ala
XM_011542737.1:c.1330A>G	XP_011541039.1:p.Thr444Ala
XM_011542738.1:c.1138A>G	XP_011541040.1:p.Thr380Ala
XM_011542736.2:c.1360A>G	XP_011541038.1:p.Thr454Ala
XM_011542737.2:c.1330A>G	XP_011541039.1:p.Thr444Ala
XM_011542738.2:c.1138A>G	XP_011541040.1:p.Thr380Ala
XM_017017475.1:c.1357A>G	XP_016872964.1:p.Thr453Ala
NM_178510.2:c.1327A>G MANE Select	NP_848605.1:p.Thr443Ala