Canonical Allele Identifier: CA2744971

Gene: AHSG

Linked Data

• dbSNP Id: rs200885597
• ExAC: 3:186336413 T / C
• gnomAD v3: 3-186618624-T-C
• gnomAD v4: 3-186618624-T-C
• MyVariant Identifiers: chr3:g.186336413T>C (hg19) ; chr3:g.186618624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618624T>C , CM000665.2:g.186618624T>C	GRCh38
NC_000003.11:g.186336413T>C , CM000665.1:g.186336413T>C	GRCh37
NC_000003.10:g.187819107T>C	NCBI36
NG_011436.1:g.10564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.662T>C MANE Select	ENSP00000393887.2:p.Leu221Pro
ENST00000273784.5:c.665T>C	ENSP00000273784.5:p.Leu222Pro
ENST00000411641.6:c.662T>C	ENSP00000393887.2:p.Leu221Pro
NM_001622.2:c.662T>C	NP_001613.2:p.Leu221Pro
NM_001354571.1:c.665T>C	NP_001341500.1:p.Leu222Pro
NM_001354572.1:c.659T>C	NP_001341501.1:p.Leu220Pro
NM_001354573.1:c.662T>C	NP_001341502.1:p.Leu221Pro
NM_001622.3:c.662T>C	NP_001613.2:p.Leu221Pro
NM_001622.4:c.662T>C MANE Select	NP_001613.2:p.Leu221Pro
NM_001354571.2:c.665T>C	NP_001341500.1:p.Leu222Pro
NM_001354572.2:c.659T>C	NP_001341501.1:p.Leu220Pro
NM_001354573.2:c.662T>C	NP_001341502.1:p.Leu221Pro