Canonical Allele Identifier: CA382644886

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399317-C-A
• MyVariant Identifiers: chr11:g.113270039C>A (hg19) ; chr11:g.113399317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399317C>A , CM000673.2:g.113399317C>A	GRCh38
NC_000011.9:g.113270039C>A , CM000673.1:g.113270039C>A	GRCh37
NC_000011.8:g.112775249C>A	NCBI36
NG_012976.1:g.16527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1348C>A MANE Select	ENSP00000306678.3:p.His450Asn
ENST00000303941.3:c.1348C>A	ENSP00000306678.3:p.His450Asn
NM_178510.1:c.1348C>A	NP_848605.1:p.His450Asn
XM_011542736.1:c.1381C>A	XP_011541038.1:p.His461Asn
XM_011542737.1:c.1351C>A	XP_011541039.1:p.His451Asn
XM_011542738.1:c.1159C>A	XP_011541040.1:p.His387Asn
XM_011542736.2:c.1381C>A	XP_011541038.1:p.His461Asn
XM_011542737.2:c.1351C>A	XP_011541039.1:p.His451Asn
XM_011542738.2:c.1159C>A	XP_011541040.1:p.His387Asn
XM_017017475.1:c.1378C>A	XP_016872964.1:p.His460Asn
NM_178510.2:c.1348C>A MANE Select	NP_848605.1:p.His450Asn