Canonical Allele Identifier: CA6281052

Gene: ANKK1

Linked Data

• dbSNP Id: rs55849504
• ExAC: 11:113270649 A / G
• gnomAD v2: 11-113270649-A-G
• gnomAD v3: 11-113399927-A-G
• gnomAD v4: 11-113399927-A-G
• MyVariant Identifiers: chr11:g.113270649A>G (hg19) ; chr11:g.113399927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399927A>G , CM000673.2:g.113399927A>G	GRCh38
NC_000011.9:g.113270649A>G , CM000673.1:g.113270649A>G	GRCh37
NC_000011.8:g.112775859A>G	NCBI36
NG_012976.1:g.17137A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1958A>G MANE Select	ENSP00000306678.3:p.Asn653Ser
ENST00000303941.3:c.1958A>G	ENSP00000306678.3:p.Asn653Ser
NM_178510.1:c.1958A>G	NP_848605.1:p.Asn653Ser
XM_011542736.1:c.1991A>G	XP_011541038.1:p.Asn664Ser
XM_011542737.1:c.1961A>G	XP_011541039.1:p.Asn654Ser
XM_011542738.1:c.1769A>G	XP_011541040.1:p.Asn590Ser
XM_011542736.2:c.1991A>G	XP_011541038.1:p.Asn664Ser
XM_011542737.2:c.1961A>G	XP_011541039.1:p.Asn654Ser
XM_011542738.2:c.1769A>G	XP_011541040.1:p.Asn590Ser
XM_017017475.1:c.1988A>G	XP_016872964.1:p.Asn663Ser
NM_178510.2:c.1958A>G MANE Select	NP_848605.1:p.Asn653Ser