Canonical Allele Identifier: CA355714464
Gene: AHSG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186618557G>T , CM000665.2:g.186618557G>T GRCh38
NC_000003.11:g.186336346G>T , CM000665.1:g.186336346G>T GRCh37
NC_000003.10:g.187819040G>T NCBI36
NG_011436.1:g.10497G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.595G>T MANE Select ENSP00000393887.2:p.Val199Leu
ENST00000273784.5:c.598G>T ENSP00000273784.5:p.Val200Leu
ENST00000411641.6:c.595G>T ENSP00000393887.2:p.Val199Leu
NM_001622.2:c.595G>T NP_001613.2:p.Val199Leu
NM_001354571.1:c.598G>T NP_001341500.1:p.Val200Leu
NM_001354572.1:c.592G>T NP_001341501.1:p.Val198Leu
NM_001354573.1:c.595G>T NP_001341502.1:p.Val199Leu
NM_001622.3:c.595G>T NP_001613.2:p.Val199Leu
NM_001622.4:c.595G>T MANE Select NP_001613.2:p.Val199Leu
NM_001354571.2:c.598G>T NP_001341500.1:p.Val200Leu
NM_001354572.2:c.592G>T NP_001341501.1:p.Val198Leu
NM_001354573.2:c.595G>T NP_001341502.1:p.Val199Leu