Canonical Allele Identifier: CA382644802

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399294-G-T
• MyVariant Identifiers: chr11:g.113270016G>T (hg19) ; chr11:g.113399294G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399294G>T , CM000673.2:g.113399294G>T	GRCh38
NC_000011.9:g.113270016G>T , CM000673.1:g.113270016G>T	GRCh37
NC_000011.8:g.112775226G>T	NCBI36
NG_012976.1:g.16504G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1325G>T MANE Select	ENSP00000306678.3:p.Gly442Val
ENST00000303941.3:c.1325G>T	ENSP00000306678.3:p.Gly442Val
NM_178510.1:c.1325G>T	NP_848605.1:p.Gly442Val
XM_011542736.1:c.1358G>T	XP_011541038.1:p.Gly453Val
XM_011542737.1:c.1328G>T	XP_011541039.1:p.Gly443Val
XM_011542738.1:c.1136G>T	XP_011541040.1:p.Gly379Val
XM_011542736.2:c.1358G>T	XP_011541038.1:p.Gly453Val
XM_011542737.2:c.1328G>T	XP_011541039.1:p.Gly443Val
XM_011542738.2:c.1136G>T	XP_011541040.1:p.Gly379Val
XM_017017475.1:c.1355G>T	XP_016872964.1:p.Gly452Val
NM_178510.2:c.1325G>T MANE Select	NP_848605.1:p.Gly442Val