Canonical Allele Identifier: CA382645129

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399391-G-T
• MyVariant Identifiers: chr11:g.113270113G>T (hg19) ; chr11:g.113399391G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399391G>T , CM000673.2:g.113399391G>T	GRCh38
NC_000011.9:g.113270113G>T , CM000673.1:g.113270113G>T	GRCh37
NC_000011.8:g.112775323G>T	NCBI36
NG_012976.1:g.16601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1422G>T MANE Select	ENSP00000306678.3:p.Glu474Asp
ENST00000303941.3:c.1422G>T	ENSP00000306678.3:p.Glu474Asp
NM_178510.1:c.1422G>T	NP_848605.1:p.Glu474Asp
XM_011542736.1:c.1455G>T	XP_011541038.1:p.Glu485Asp
XM_011542737.1:c.1425G>T	XP_011541039.1:p.Glu475Asp
XM_011542738.1:c.1233G>T	XP_011541040.1:p.Glu411Asp
XM_011542736.2:c.1455G>T	XP_011541038.1:p.Glu485Asp
XM_011542737.2:c.1425G>T	XP_011541039.1:p.Glu475Asp
XM_011542738.2:c.1233G>T	XP_011541040.1:p.Glu411Asp
XM_017017475.1:c.1452G>T	XP_016872964.1:p.Glu484Asp
NM_178510.2:c.1422G>T MANE Select	NP_848605.1:p.Glu474Asp