Canonical Allele Identifier: CA382644390

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399121-C-A
• MyVariant Identifiers: chr11:g.113269843C>A (hg19) ; chr11:g.113399121C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399121C>A , CM000673.2:g.113399121C>A	GRCh38
NC_000011.9:g.113269843C>A , CM000673.1:g.113269843C>A	GRCh37
NC_000011.8:g.112775053C>A	NCBI36
NG_012976.1:g.16331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1152C>A MANE Select	ENSP00000306678.3:p.His384Gln
ENST00000303941.3:c.1152C>A	ENSP00000306678.3:p.His384Gln
NM_178510.1:c.1152C>A	NP_848605.1:p.His384Gln
XM_011542736.1:c.1185C>A	XP_011541038.1:p.His395Gln
XM_011542737.1:c.1155C>A	XP_011541039.1:p.His385Gln
XM_011542738.1:c.963C>A	XP_011541040.1:p.His321Gln
XM_011542736.2:c.1185C>A	XP_011541038.1:p.His395Gln
XM_011542737.2:c.1155C>A	XP_011541039.1:p.His385Gln
XM_011542738.2:c.963C>A	XP_011541040.1:p.His321Gln
XM_017017475.1:c.1182C>A	XP_016872964.1:p.His394Gln
NM_178510.2:c.1152C>A MANE Select	NP_848605.1:p.His384Gln