Canonical Allele Identifier: CA1057401297

Gene: AHSG

Linked Data

• dbSNP Id: rs547118805
• gnomAD v3: 3-186617926-G-T
• gnomAD v4: 3-186617926-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186617926G>T , CM000665.2:g.186617926G>T	GRCh38
NC_000003.11:g.186335715G>T , CM000665.1:g.186335715G>T	GRCh37
NC_000003.10:g.187818409G>T	NCBI36
NG_011436.1:g.9866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.573+576G>T MANE Select	ENSP00000393887.2:n.573+576G>T
ENST00000273784.5:c.576+576G>T	ENSP00000273784.5:n.576+576G>T
ENST00000411641.6:c.573+576G>T	ENSP00000393887.2:n.573+576G>T
ENST00000478441.1:n.1206G>T
NM_001622.2:c.573+576G>T	NP_001613.2:n.573+576G>T
NM_001354571.1:c.576+576G>T	NP_001341500.1:n.576+576G>T
NM_001354572.1:c.570+576G>T	NP_001341501.1:n.570+576G>T
NM_001354573.1:c.573+576G>T	NP_001341502.1:n.573+576G>T
NM_001622.3:c.573+576G>T	NP_001613.2:n.573+576G>T
NM_001622.4:c.573+576G>T MANE Select	NP_001613.2:n.573+576G>T
NM_001354571.2:c.576+576G>T	NP_001341500.1:n.576+576G>T
NM_001354572.2:c.570+576G>T	NP_001341501.1:n.570+576G>T
NM_001354573.2:c.573+576G>T	NP_001341502.1:n.573+576G>T