Canonical Allele Identifier: CA6281051

Gene: ANKK1

Linked Data

• dbSNP Id: rs770514908
• ExAC: 11:113270645 C / T
• gnomAD v2: 11-113270645-C-T
• gnomAD v4: 11-113399923-C-T
• MyVariant Identifiers: chr11:g.113270645C>T (hg19) ; chr11:g.113399923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399923C>T , CM000673.2:g.113399923C>T	GRCh38
NC_000011.9:g.113270645C>T , CM000673.1:g.113270645C>T	GRCh37
NC_000011.8:g.112775855C>T	NCBI36
NG_012976.1:g.17133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1954C>T MANE Select	ENSP00000306678.3:p.Pro652Ser
ENST00000303941.3:c.1954C>T	ENSP00000306678.3:p.Pro652Ser
NM_178510.1:c.1954C>T	NP_848605.1:p.Pro652Ser
XM_011542736.1:c.1987C>T	XP_011541038.1:p.Pro663Ser
XM_011542737.1:c.1957C>T	XP_011541039.1:p.Pro653Ser
XM_011542738.1:c.1765C>T	XP_011541040.1:p.Pro589Ser
XM_011542736.2:c.1987C>T	XP_011541038.1:p.Pro663Ser
XM_011542737.2:c.1957C>T	XP_011541039.1:p.Pro653Ser
XM_011542738.2:c.1765C>T	XP_011541040.1:p.Pro589Ser
XM_017017475.1:c.1984C>T	XP_016872964.1:p.Pro662Ser
NM_178510.2:c.1954C>T MANE Select	NP_848605.1:p.Pro652Ser