Canonical Allele Identifier: CA548454611

Gene: AHSG

Linked Data

• dbSNP Id: rs1443511235
• gnomAD v2: 3-186336183-C-T
• gnomAD v3: 3-186618394-C-T
• gnomAD v4: 3-186618394-C-T
• MyVariant Identifiers: chr3:g.186336183C>T (hg19) ; chr3:g.186618394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618394C>T , CM000665.2:g.186618394C>T	GRCh38
NC_000003.11:g.186336183C>T , CM000665.1:g.186336183C>T	GRCh37
NC_000003.10:g.187818877C>T	NCBI36
NG_011436.1:g.10334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.574-142C>T MANE Select	ENSP00000393887.2:n.574-142C>T
ENST00000273784.5:c.577-142C>T	ENSP00000273784.5:n.577-142C>T
ENST00000411641.6:c.574-142C>T	ENSP00000393887.2:n.574-142C>T
NM_001622.2:c.574-142C>T	NP_001613.2:n.574-142C>T
NM_001354571.1:c.577-142C>T	NP_001341500.1:n.577-142C>T
NM_001354572.1:c.571-142C>T	NP_001341501.1:n.571-142C>T
NM_001354573.1:c.574-142C>T	NP_001341502.1:n.574-142C>T
NM_001622.3:c.574-142C>T	NP_001613.2:n.574-142C>T
NM_001622.4:c.574-142C>T MANE Select	NP_001613.2:n.574-142C>T
NM_001354571.2:c.577-142C>T	NP_001341500.1:n.577-142C>T
NM_001354572.2:c.571-142C>T	NP_001341501.1:n.571-142C>T
NM_001354573.2:c.574-142C>T	NP_001341502.1:n.574-142C>T