Canonical Allele Identifier: CA355715592

Gene: AHSG

Linked Data

• dbSNP Id: rs1716453775
• gnomAD v4: 3-186620638-C-T
• MyVariant Identifiers: chr3:g.186338427C>T (hg19) ; chr3:g.186620638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620638C>T , CM000665.2:g.186620638C>T	GRCh38
NC_000003.11:g.186338427C>T , CM000665.1:g.186338427C>T	GRCh37
NC_000003.10:g.187821121C>T	NCBI36
NG_011436.1:g.12578C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.812C>T MANE Select	ENSP00000393887.2:p.Pro271Leu
ENST00000273784.5:c.815C>T	ENSP00000273784.5:p.Pro272Leu
ENST00000411641.6:c.812C>T	ENSP00000393887.2:p.Pro271Leu
NM_001622.2:c.812C>T	NP_001613.2:p.Pro271Leu
NM_001354571.1:c.815C>T	NP_001341500.1:p.Pro272Leu
NM_001354572.1:c.809C>T	NP_001341501.1:p.Pro270Leu
NM_001354573.1:c.728C>T	NP_001341502.1:p.Pro243Leu
NM_001622.3:c.812C>T	NP_001613.2:p.Pro271Leu
NM_001622.4:c.812C>T MANE Select	NP_001613.2:p.Pro271Leu
NM_001354571.2:c.815C>T	NP_001341500.1:p.Pro272Leu
NM_001354572.2:c.809C>T	NP_001341501.1:p.Pro270Leu
NM_001354573.2:c.728C>T	NP_001341502.1:p.Pro243Leu