Canonical Allele Identifier: CA2744964

Gene: AHSG

Linked Data

• dbSNP Id: rs771078303
• ExAC: 3:186336368 C / T
• gnomAD v2: 3-186336368-C-T
• gnomAD v4: 3-186618579-C-T
• MyVariant Identifiers: chr3:g.186336368C>T (hg19) ; chr3:g.186618579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618579C>T , CM000665.2:g.186618579C>T	GRCh38
NC_000003.11:g.186336368C>T , CM000665.1:g.186336368C>T	GRCh37
NC_000003.10:g.187819062C>T	NCBI36
NG_011436.1:g.10519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.617C>T MANE Select	ENSP00000393887.2:p.Thr206Ile
ENST00000273784.5:c.620C>T	ENSP00000273784.5:p.Thr207Ile
ENST00000411641.6:c.617C>T	ENSP00000393887.2:p.Thr206Ile
NM_001622.2:c.617C>T	NP_001613.2:p.Thr206Ile
NM_001354571.1:c.620C>T	NP_001341500.1:p.Thr207Ile
NM_001354572.1:c.614C>T	NP_001341501.1:p.Thr205Ile
NM_001354573.1:c.617C>T	NP_001341502.1:p.Thr206Ile
NM_001622.3:c.617C>T	NP_001613.2:p.Thr206Ile
NM_001622.4:c.617C>T MANE Select	NP_001613.2:p.Thr206Ile
NM_001354571.2:c.620C>T	NP_001341500.1:p.Thr207Ile
NM_001354572.2:c.614C>T	NP_001341501.1:p.Thr205Ile
NM_001354573.2:c.617C>T	NP_001341502.1:p.Thr206Ile