Canonical Allele Identifier: CA477042838

Gene: ANKK1

Linked Data

• dbSNP Id: rs548499152
• gnomAD v2: 11-113269958-C-A
• gnomAD v4: 11-113399236-C-A
• MyVariant Identifiers: chr11:g.113269958C>A (hg19) ; chr11:g.113399236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399236C>A , CM000673.2:g.113399236C>A	GRCh38
NC_000011.9:g.113269958C>A , CM000673.1:g.113269958C>A	GRCh37
NC_000011.8:g.112775168C>A	NCBI36
NG_012976.1:g.16446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1267C>A MANE Select	ENSP00000306678.3:p.Arg423=
ENST00000303941.3:c.1267C>A	ENSP00000306678.3:p.Arg423=
NM_178510.1:c.1267C>A	NP_848605.1:p.Arg423=
XM_011542736.1:c.1300C>A	XP_011541038.1:p.Arg434=
XM_011542737.1:c.1270C>A	XP_011541039.1:p.Arg424=
XM_011542738.1:c.1078C>A	XP_011541040.1:p.Arg360=
XM_011542736.2:c.1300C>A	XP_011541038.1:p.Arg434=
XM_011542737.2:c.1270C>A	XP_011541039.1:p.Arg424=
XM_011542738.2:c.1078C>A	XP_011541040.1:p.Arg360=
XM_017017475.1:c.1297C>A	XP_016872964.1:p.Arg433=
NM_178510.2:c.1267C>A MANE Select	NP_848605.1:p.Arg423=