Canonical Allele Identifier: CA382647144

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113400015-C-A
• MyVariant Identifiers: chr11:g.113270737C>A (hg19) ; chr11:g.113400015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400015C>A , CM000673.2:g.113400015C>A	GRCh38
NC_000011.9:g.113270737C>A , CM000673.1:g.113270737C>A	GRCh37
NC_000011.8:g.112775947C>A	NCBI36
NG_012976.1:g.17225C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2046C>A MANE Select	ENSP00000306678.3:p.His682Gln
ENST00000303941.3:c.2046C>A	ENSP00000306678.3:p.His682Gln
NM_178510.1:c.2046C>A	NP_848605.1:p.His682Gln
XM_011542736.1:c.2079C>A	XP_011541038.1:p.His693Gln
XM_011542737.1:c.2049C>A	XP_011541039.1:p.His683Gln
XM_011542738.1:c.1857C>A	XP_011541040.1:p.His619Gln
XM_011542736.2:c.2079C>A	XP_011541038.1:p.His693Gln
XM_011542737.2:c.2049C>A	XP_011541039.1:p.His683Gln
XM_011542738.2:c.1857C>A	XP_011541040.1:p.His619Gln
XM_017017475.1:c.2076C>A	XP_016872964.1:p.His692Gln
NM_178510.2:c.2046C>A MANE Select	NP_848605.1:p.His682Gln