Canonical Allele Identifier: CA355175150

Gene: GFM1

Linked Data

• gnomAD v4: 3-158645659-T-G
• MyVariant Identifiers: chr3:g.158363448T>G (hg19) ; chr3:g.158645659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158645659T>G , CM000665.2:g.158645659T>G	GRCh38
NC_000003.11:g.158363448T>G , CM000665.1:g.158363448T>G	GRCh37
NC_000003.10:g.159846142T>G	NCBI36
NG_008441.1:g.6132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.112T>G MANE Select	ENSP00000419038.1:p.Ser38Ala
ENST00000264263.9:c.112T>G	ENSP00000264263.5:p.Ser38Ala
ENST00000464732.1:c.-114T>G	ENSP00000417532.1:n.-114T>G
ENST00000478254.5:c.112T>G	ENSP00000417225.1:p.Ser38Ala
ENST00000478576.5:c.112T>G	ENSP00000418755.1:p.Ser38Ala
ENST00000486715.5:c.112T>G	ENSP00000419038.1:p.Ser38Ala
NM_001308164.1:c.112T>G	NP_001295093.1:p.Ser38Ala
NM_001308166.1:c.112T>G	NP_001295095.1:p.Ser38Ala
NM_024996.5:c.112T>G	NP_079272.4:p.Ser38Ala
XM_006713795.1:c.112T>G	XP_006713858.1:p.Ser38Ala
XM_006713795.2:c.112T>G	XP_006713858.1:p.Ser38Ala
NM_001374355.1:c.112T>G	NP_001361284.1:p.Ser38Ala
NM_001374356.1:c.112T>G	NP_001361285.1:p.Ser38Ala
NM_001374357.1:c.-114T>G	NP_001361286.1:n.-114T>G
NM_001374358.1:c.112T>G	NP_001361287.1:p.Ser38Ala
NM_001374359.1:c.-118T>G	NP_001361288.1:n.-118T>G
NM_001374360.1:c.-118T>G	NP_001361289.1:n.-118T>G
NM_001374361.1:c.-118T>G	NP_001361290.1:n.-118T>G
NM_024996.7:c.112T>G MANE Select	NP_079272.4:p.Ser38Ala
NR_164499.1:n.220T>G
NR_164500.1:n.220T>G
NR_164501.1:n.220T>G
NR_164502.1:n.220T>G
NM_001308164.2:c.112T>G	NP_001295093.1:p.Ser38Ala
NM_001308166.2:c.112T>G	NP_001295095.1:p.Ser38Ala