Canonical Allele Identifier: CA6280904

Gene: ANKK1

Linked Data

• dbSNP Id: rs774414528
• ExAC: 11:113269920 T / A
• gnomAD v2: 11-113269920-T-A
• gnomAD v4: 11-113399198-T-A
• MyVariant Identifiers: chr11:g.113269920T>A (hg19) ; chr11:g.113399198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399198T>A , CM000673.2:g.113399198T>A	GRCh38
NC_000011.9:g.113269920T>A , CM000673.1:g.113269920T>A	GRCh37
NC_000011.8:g.112775130T>A	NCBI36
NG_012976.1:g.16408T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1229T>A MANE Select	ENSP00000306678.3:p.Leu410His
ENST00000303941.3:c.1229T>A	ENSP00000306678.3:p.Leu410His
NM_178510.1:c.1229T>A	NP_848605.1:p.Leu410His
XM_011542736.1:c.1262T>A	XP_011541038.1:p.Leu421His
XM_011542737.1:c.1232T>A	XP_011541039.1:p.Leu411His
XM_011542738.1:c.1040T>A	XP_011541040.1:p.Leu347His
XM_011542736.2:c.1262T>A	XP_011541038.1:p.Leu421His
XM_011542737.2:c.1232T>A	XP_011541039.1:p.Leu411His
XM_011542738.2:c.1040T>A	XP_011541040.1:p.Leu347His
XM_017017475.1:c.1259T>A	XP_016872964.1:p.Leu420His
NM_178510.2:c.1229T>A MANE Select	NP_848605.1:p.Leu410His