Canonical Allele Identifier: CA382644827

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399302-C-A
• MyVariant Identifiers: chr11:g.113270024C>A (hg19) ; chr11:g.113399302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399302C>A , CM000673.2:g.113399302C>A	GRCh38
NC_000011.9:g.113270024C>A , CM000673.1:g.113270024C>A	GRCh37
NC_000011.8:g.112775234C>A	NCBI36
NG_012976.1:g.16512C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1333C>A MANE Select	ENSP00000306678.3:p.Arg445Ser
ENST00000303941.3:c.1333C>A	ENSP00000306678.3:p.Arg445Ser
NM_178510.1:c.1333C>A	NP_848605.1:p.Arg445Ser
XM_011542736.1:c.1366C>A	XP_011541038.1:p.Arg456Ser
XM_011542737.1:c.1336C>A	XP_011541039.1:p.Arg446Ser
XM_011542738.1:c.1144C>A	XP_011541040.1:p.Arg382Ser
XM_011542736.2:c.1366C>A	XP_011541038.1:p.Arg456Ser
XM_011542737.2:c.1336C>A	XP_011541039.1:p.Arg446Ser
XM_011542738.2:c.1144C>A	XP_011541040.1:p.Arg382Ser
XM_017017475.1:c.1363C>A	XP_016872964.1:p.Arg455Ser
NM_178510.2:c.1333C>A MANE Select	NP_848605.1:p.Arg445Ser