Canonical Allele Identifier: CA382644841

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399306-T-A
• MyVariant Identifiers: chr11:g.113270028T>A (hg19) ; chr11:g.113399306T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399306T>A , CM000673.2:g.113399306T>A	GRCh38
NC_000011.9:g.113270028T>A , CM000673.1:g.113270028T>A	GRCh37
NC_000011.8:g.112775238T>A	NCBI36
NG_012976.1:g.16516T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1337T>A MANE Select	ENSP00000306678.3:p.Leu446Gln
ENST00000303941.3:c.1337T>A	ENSP00000306678.3:p.Leu446Gln
NM_178510.1:c.1337T>A	NP_848605.1:p.Leu446Gln
XM_011542736.1:c.1370T>A	XP_011541038.1:p.Leu457Gln
XM_011542737.1:c.1340T>A	XP_011541039.1:p.Leu447Gln
XM_011542738.1:c.1148T>A	XP_011541040.1:p.Leu383Gln
XM_011542736.2:c.1370T>A	XP_011541038.1:p.Leu457Gln
XM_011542737.2:c.1340T>A	XP_011541039.1:p.Leu447Gln
XM_011542738.2:c.1148T>A	XP_011541040.1:p.Leu383Gln
XM_017017475.1:c.1367T>A	XP_016872964.1:p.Leu456Gln
NM_178510.2:c.1337T>A MANE Select	NP_848605.1:p.Leu446Gln