Canonical Allele Identifier: CA477042474

Gene: ANKK1

Linked Data

• dbSNP Id: rs1187466056
• gnomAD v2: 11-113270017-C-T
• gnomAD v4: 11-113399295-C-T
• MyVariant Identifiers: chr11:g.113270017C>T (hg19) ; chr11:g.113399295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399295C>T , CM000673.2:g.113399295C>T	GRCh38
NC_000011.9:g.113270017C>T , CM000673.1:g.113270017C>T	GRCh37
NC_000011.8:g.112775227C>T	NCBI36
NG_012976.1:g.16505C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1326C>T MANE Select	ENSP00000306678.3:p.Gly442=
ENST00000303941.3:c.1326C>T	ENSP00000306678.3:p.Gly442=
NM_178510.1:c.1326C>T	NP_848605.1:p.Gly442=
XM_011542736.1:c.1359C>T	XP_011541038.1:p.Gly453=
XM_011542737.1:c.1329C>T	XP_011541039.1:p.Gly443=
XM_011542738.1:c.1137C>T	XP_011541040.1:p.Gly379=
XM_011542736.2:c.1359C>T	XP_011541038.1:p.Gly453=
XM_011542737.2:c.1329C>T	XP_011541039.1:p.Gly443=
XM_011542738.2:c.1137C>T	XP_011541040.1:p.Gly379=
XM_017017475.1:c.1356C>T	XP_016872964.1:p.Gly452=
NM_178510.2:c.1326C>T MANE Select	NP_848605.1:p.Gly442=