Canonical Allele Identifier: CA397504253

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1470452292
• gnomAD v2: 17-649044-A-G
• gnomAD v4: 17-745804-A-G
• MyVariant Identifiers: chr17:g.649044A>G (hg19) ; chr17:g.745804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745804A>G , CM000679.2:g.745804A>G	GRCh38
NC_000017.10:g.649044A>G , CM000679.1:g.649044A>G	GRCh37
NC_000017.9:g.595794A>G	NCBI36
NG_046938.1:g.12069T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000319004.6:c.2239T>C MANE Select	ENSP00000321706.5:p.Phe747Leu
ENST00000319004.5:c.2239T>C	ENSP00000321706.5:p.Phe747Leu
ENST00000576778.1:c.2206T>C	ENSP00000459565.1:p.Phe736Leu
NM_015721.2:c.2239T>C	NP_056536.2:p.Phe747Leu
XM_005256667.3:c.2251T>C	XP_005256724.1:p.Phe751Leu
XM_005256668.3:c.2251T>C	XP_005256725.1:p.Phe751Leu
XM_005256670.3:c.2206T>C	XP_005256727.1:p.Phe736Leu
XM_011523910.1:c.2251T>C	XP_011522212.1:p.Phe751Leu
XM_011523911.1:c.2251T>C	XP_011522213.1:p.Phe751Leu
XM_011523912.1:c.2206T>C	XP_011522214.1:p.Phe736Leu
XM_011523913.1:c.2206T>C	XP_011522215.1:p.Phe736Leu
XM_005256667.4:c.2251T>C	XP_005256724.1:p.Phe751Leu
XM_005256670.5:c.2206T>C	XP_005256727.1:p.Phe736Leu
XM_011523910.2:c.2251T>C	XP_011522212.1:p.Phe751Leu
XM_011523911.2:c.2251T>C	XP_011522213.1:p.Phe751Leu
XM_011523912.2:c.2206T>C	XP_011522214.1:p.Phe736Leu
XM_011523913.2:c.2206T>C	XP_011522215.1:p.Phe736Leu
XM_017024709.1:c.2251T>C	XP_016880198.1:p.Phe751Leu
NM_015721.3:c.2239T>C MANE Select	NP_056536.2:p.Phe747Leu