Canonical Allele Identifier: CA228616090

Gene: ANKK1

Linked Data

• dbSNP Id: rs961308840
• gnomAD v3: 11-113400009-A-T
• gnomAD v4: 11-113400009-A-T
• MyVariant Identifiers: chr11:g.113270731A>T (hg19) ; chr11:g.113400009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400009A>T , CM000673.2:g.113400009A>T	GRCh38
NC_000011.9:g.113270731A>T , CM000673.1:g.113270731A>T	GRCh37
NC_000011.8:g.112775941A>T	NCBI36
NG_012976.1:g.17219A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2040A>T MANE Select	ENSP00000306678.3:p.Glu680Asp
ENST00000303941.3:c.2040A>T	ENSP00000306678.3:p.Glu680Asp
NM_178510.1:c.2040A>T	NP_848605.1:p.Glu680Asp
XM_011542736.1:c.2073A>T	XP_011541038.1:p.Glu691Asp
XM_011542737.1:c.2043A>T	XP_011541039.1:p.Glu681Asp
XM_011542738.1:c.1851A>T	XP_011541040.1:p.Glu617Asp
XM_011542736.2:c.2073A>T	XP_011541038.1:p.Glu691Asp
XM_011542737.2:c.2043A>T	XP_011541039.1:p.Glu681Asp
XM_011542738.2:c.1851A>T	XP_011541040.1:p.Glu617Asp
XM_017017475.1:c.2070A>T	XP_016872964.1:p.Glu690Asp
NM_178510.2:c.2040A>T MANE Select	NP_848605.1:p.Glu680Asp