Canonical Allele Identifier: CA126163

Gene: AHSG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001622.4:c.743T>C MANE Select	NP_001613.2:p.Met248Thr
ENST00000411641.7:c.743T>C MANE Select	ENSP00000393887.2:p.Met248Thr
NM_001354571.1:c.746T>C	NP_001341500.1:p.Met249Thr
NM_001354571.2:c.746T>C	NP_001341500.1:p.Met249Thr
NM_001354572.1:c.740T>C	NP_001341501.1:p.Met247Thr
NM_001354572.2:c.740T>C	NP_001341501.1:p.Met247Thr
NM_001354573.1:c.676-662T>C	NP_001341502.1:n.676-662T>C
NM_001354573.2:c.676-662T>C	NP_001341502.1:n.676-662T>C
NM_001622.2:c.743T>C	NP_001613.2:p.Met248Thr
NM_001622.3:c.743T>C	NP_001613.2:p.Met248Thr
ENST00000273784.5:c.746T>C	ENSP00000273784.5:p.Met249Thr
ENST00000411641.6:c.743T>C	ENSP00000393887.2:p.Met248Thr