Canonical Allele Identifier: CA355715887
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186620776G>T
GRCh37 chr3:g.186338565G>T
Revel Score:
ENST00000411641 (MANE Select) 0.138
ENST00000541510 0.138
ENST00000273784 0.138
gnomAD v2:
3:186338565 G / T
gnomAD v4:
chr3-186620776-G-T
Joint Max Group AF 0.00000442 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620776G>T , CM000665.2:g.186620776G>T GRCh38
NC_000003.11:g.186338565G>T , CM000665.1:g.186338565G>T GRCh37
NC_000003.10:g.187821259G>T NCBI36
NG_011436.1:g.12716G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.950G>T MANE Select ENSP00000393887.2:p.Arg317Leu
ENST00000273784.5:c.953G>T ENSP00000273784.5:p.Arg318Leu
ENST00000411641.6:c.950G>T ENSP00000393887.2:p.Arg317Leu
NM_001622.2:c.950G>T NP_001613.2:p.Arg317Leu
NM_001354571.1:c.953G>T NP_001341500.1:p.Arg318Leu
NM_001354572.1:c.947G>T NP_001341501.1:p.Arg316Leu
NM_001354573.1:c.866G>T NP_001341502.1:p.Arg289Leu
NM_001622.3:c.950G>T NP_001613.2:p.Arg317Leu
NM_001622.4:c.950G>T MANE Select NP_001613.2:p.Arg317Leu
NM_001354571.2:c.953G>T NP_001341500.1:p.Arg318Leu
NM_001354572.2:c.947G>T NP_001341501.1:p.Arg316Leu
NM_001354573.2:c.866G>T NP_001341502.1:p.Arg289Leu
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