Canonical Allele Identifier: CA6280902

Gene: ANKK1

Linked Data

• dbSNP Id: rs762838778
• ExAC: 11:113269916 G / A
• gnomAD v2: 11-113269916-G-A
• gnomAD v3: 11-113399194-G-A
• gnomAD v4: 11-113399194-G-A
• MyVariant Identifiers: chr11:g.113269916G>A (hg19) ; chr11:g.113399194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399194G>A , CM000673.2:g.113399194G>A	GRCh38
NC_000011.9:g.113269916G>A , CM000673.1:g.113269916G>A	GRCh37
NC_000011.8:g.112775126G>A	NCBI36
NG_012976.1:g.16404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1225G>A MANE Select	ENSP00000306678.3:p.Asp409Asn
ENST00000303941.3:c.1225G>A	ENSP00000306678.3:p.Asp409Asn
NM_178510.1:c.1225G>A	NP_848605.1:p.Asp409Asn
XM_011542736.1:c.1258G>A	XP_011541038.1:p.Asp420Asn
XM_011542737.1:c.1228G>A	XP_011541039.1:p.Asp410Asn
XM_011542738.1:c.1036G>A	XP_011541040.1:p.Asp346Asn
XM_011542736.2:c.1258G>A	XP_011541038.1:p.Asp420Asn
XM_011542737.2:c.1228G>A	XP_011541039.1:p.Asp410Asn
XM_011542738.2:c.1036G>A	XP_011541040.1:p.Asp346Asn
XM_017017475.1:c.1255G>A	XP_016872964.1:p.Asp419Asn
NM_178510.2:c.1225G>A MANE Select	NP_848605.1:p.Asp409Asn