Canonical Allele Identifier: CA2745029

Gene: AHSG

Linked Data

• dbSNP Id: rs771455281
• ExAC: 3:186338342 C / T
• gnomAD v2: 3-186338342-C-T
• gnomAD v3: 3-186620553-C-T
• gnomAD v4: 3-186620553-C-T
• MyVariant Identifiers: chr3:g.186338342C>T (hg19) ; chr3:g.186620553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620553C>T , CM000665.2:g.186620553C>T	GRCh38
NC_000003.11:g.186338342C>T , CM000665.1:g.186338342C>T	GRCh37
NC_000003.10:g.187821036C>T	NCBI36
NG_011436.1:g.12493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.760-33C>T MANE Select	ENSP00000393887.2:n.760-33C>T
ENST00000273784.5:c.763-33C>T	ENSP00000273784.5:n.763-33C>T
ENST00000411641.6:c.760-33C>T	ENSP00000393887.2:n.760-33C>T
NM_001622.2:c.760-33C>T	NP_001613.2:n.760-33C>T
NM_001354571.1:c.763-33C>T	NP_001341500.1:n.763-33C>T
NM_001354572.1:c.757-33C>T	NP_001341501.1:n.757-33C>T
NM_001354573.1:c.676-33C>T	NP_001341502.1:n.676-33C>T
NM_001622.3:c.760-33C>T	NP_001613.2:n.760-33C>T
NM_001622.4:c.760-33C>T MANE Select	NP_001613.2:n.760-33C>T
NM_001354571.2:c.763-33C>T	NP_001341500.1:n.763-33C>T
NM_001354572.2:c.757-33C>T	NP_001341501.1:n.757-33C>T
NM_001354573.2:c.676-33C>T	NP_001341502.1:n.676-33C>T