Canonical Allele Identifier: CA355714993

Gene: AHSG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186619924T>A , CM000665.2:g.186619924T>A	GRCh38
NC_000003.11:g.186337713T>A , CM000665.1:g.186337713T>A	GRCh37
NC_000003.10:g.187820407T>A	NCBI36
NG_011436.1:g.11864T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001622.4:c.743T>A MANE Select	NP_001613.2:p.Met248Lys
ENST00000411641.7:c.743T>A MANE Select	ENSP00000393887.2:p.Met248Lys
NM_001354571.1:c.746T>A	NP_001341500.1:p.Met249Lys
NM_001354571.2:c.746T>A	NP_001341500.1:p.Met249Lys
NM_001354572.1:c.740T>A	NP_001341501.1:p.Met247Lys
NM_001354572.2:c.740T>A	NP_001341501.1:p.Met247Lys
NM_001354573.1:c.676-662T>A	NP_001341502.1:n.676-662T>A
NM_001354573.2:c.676-662T>A	NP_001341502.1:n.676-662T>A
NM_001622.2:c.743T>A	NP_001613.2:p.Met248Lys
NM_001622.3:c.743T>A	NP_001613.2:p.Met248Lys
ENST00000273784.5:c.746T>A	ENSP00000273784.5:p.Met249Lys
ENST00000411641.6:c.743T>A	ENSP00000393887.2:p.Met248Lys