Canonical Allele Identifier: CA382644452

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113269871T>G (hg19) ; chr11:g.113399149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399149T>G , CM000673.2:g.113399149T>G	GRCh38
NC_000011.9:g.113269871T>G , CM000673.1:g.113269871T>G	GRCh37
NC_000011.8:g.112775081T>G	NCBI36
NG_012976.1:g.16359T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1180T>G MANE Select	ENSP00000306678.3:p.Ser394Ala
ENST00000303941.3:c.1180T>G	ENSP00000306678.3:p.Ser394Ala
NM_178510.1:c.1180T>G	NP_848605.1:p.Ser394Ala
XM_011542736.1:c.1213T>G	XP_011541038.1:p.Ser405Ala
XM_011542737.1:c.1183T>G	XP_011541039.1:p.Ser395Ala
XM_011542738.1:c.991T>G	XP_011541040.1:p.Ser331Ala
XM_011542736.2:c.1213T>G	XP_011541038.1:p.Ser405Ala
XM_011542737.2:c.1183T>G	XP_011541039.1:p.Ser395Ala
XM_011542738.2:c.991T>G	XP_011541040.1:p.Ser331Ala
XM_017017475.1:c.1210T>G	XP_016872964.1:p.Ser404Ala
NM_178510.2:c.1180T>G MANE Select	NP_848605.1:p.Ser394Ala