Canonical Allele Identifier: CA397506715

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1466737904
• gnomAD v2: 17-649668-C-T
• gnomAD v4: 17-746428-C-T
• MyVariant Identifiers: chr17:g.649668C>T (hg19) ; chr17:g.746428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746428C>T , CM000679.2:g.746428C>T	GRCh38
NC_000017.10:g.649668C>T , CM000679.1:g.649668C>T	GRCh37
NC_000017.9:g.596418C>T	NCBI36
NG_046938.1:g.11445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1615G>A MANE Select	ENSP00000321706.5:p.Glu539Lys
ENST00000319004.5:c.1615G>A	ENSP00000321706.5:p.Glu539Lys
ENST00000576778.1:c.1582G>A	ENSP00000459565.1:p.Glu528Lys
NM_015721.2:c.1615G>A	NP_056536.2:p.Glu539Lys
XM_005256667.3:c.1627G>A	XP_005256724.1:p.Glu543Lys
XM_005256668.3:c.1627G>A	XP_005256725.1:p.Glu543Lys
XM_005256670.3:c.1582G>A	XP_005256727.1:p.Glu528Lys
XM_011523910.1:c.1627G>A	XP_011522212.1:p.Glu543Lys
XM_011523911.1:c.1627G>A	XP_011522213.1:p.Glu543Lys
XM_011523912.1:c.1582G>A	XP_011522214.1:p.Glu528Lys
XM_011523913.1:c.1582G>A	XP_011522215.1:p.Glu528Lys
XM_005256667.4:c.1627G>A	XP_005256724.1:p.Glu543Lys
XM_005256670.5:c.1582G>A	XP_005256727.1:p.Glu528Lys
XM_011523910.2:c.1627G>A	XP_011522212.1:p.Glu543Lys
XM_011523911.2:c.1627G>A	XP_011522213.1:p.Glu543Lys
XM_011523912.2:c.1582G>A	XP_011522214.1:p.Glu528Lys
XM_011523913.2:c.1582G>A	XP_011522215.1:p.Glu528Lys
XM_017024709.1:c.1627G>A	XP_016880198.1:p.Glu543Lys
NM_015721.3:c.1615G>A MANE Select	NP_056536.2:p.Glu539Lys