Canonical Allele Identifier: CA382646692

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399906-T-A
• MyVariant Identifiers: chr11:g.113270628T>A (hg19) ; chr11:g.113399906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399906T>A , CM000673.2:g.113399906T>A	GRCh38
NC_000011.9:g.113270628T>A , CM000673.1:g.113270628T>A	GRCh37
NC_000011.8:g.112775838T>A	NCBI36
NG_012976.1:g.17116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1937T>A MANE Select	ENSP00000306678.3:p.Leu646Gln
ENST00000303941.3:c.1937T>A	ENSP00000306678.3:p.Leu646Gln
NM_178510.1:c.1937T>A	NP_848605.1:p.Leu646Gln
XM_011542736.1:c.1970T>A	XP_011541038.1:p.Leu657Gln
XM_011542737.1:c.1940T>A	XP_011541039.1:p.Leu647Gln
XM_011542738.1:c.1748T>A	XP_011541040.1:p.Leu583Gln
XM_011542736.2:c.1970T>A	XP_011541038.1:p.Leu657Gln
XM_011542737.2:c.1940T>A	XP_011541039.1:p.Leu647Gln
XM_011542738.2:c.1748T>A	XP_011541040.1:p.Leu583Gln
XM_017017475.1:c.1967T>A	XP_016872964.1:p.Leu656Gln
NM_178510.2:c.1937T>A MANE Select	NP_848605.1:p.Leu646Gln