Canonical Allele Identifier: CA397505721

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1287533532
• gnomAD v2: 17-649196-G-A
• gnomAD v4: 17-745956-G-A
• MyVariant Identifiers: chr17:g.649196G>A (hg19) ; chr17:g.745956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745956G>A , CM000679.2:g.745956G>A	GRCh38
NC_000017.10:g.649196G>A , CM000679.1:g.649196G>A	GRCh37
NC_000017.9:g.595946G>A	NCBI36
NG_046938.1:g.11917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2087C>T MANE Select	ENSP00000321706.5:p.Pro696Leu
ENST00000319004.5:c.2087C>T	ENSP00000321706.5:p.Pro696Leu
ENST00000576778.1:c.2054C>T	ENSP00000459565.1:p.Pro685Leu
NM_015721.2:c.2087C>T	NP_056536.2:p.Pro696Leu
XM_005256667.3:c.2099C>T	XP_005256724.1:p.Pro700Leu
XM_005256668.3:c.2099C>T	XP_005256725.1:p.Pro700Leu
XM_005256670.3:c.2054C>T	XP_005256727.1:p.Pro685Leu
XM_011523910.1:c.2099C>T	XP_011522212.1:p.Pro700Leu
XM_011523911.1:c.2099C>T	XP_011522213.1:p.Pro700Leu
XM_011523912.1:c.2054C>T	XP_011522214.1:p.Pro685Leu
XM_011523913.1:c.2054C>T	XP_011522215.1:p.Pro685Leu
XM_005256667.4:c.2099C>T	XP_005256724.1:p.Pro700Leu
XM_005256670.5:c.2054C>T	XP_005256727.1:p.Pro685Leu
XM_011523910.2:c.2099C>T	XP_011522212.1:p.Pro700Leu
XM_011523911.2:c.2099C>T	XP_011522213.1:p.Pro700Leu
XM_011523912.2:c.2054C>T	XP_011522214.1:p.Pro685Leu
XM_011523913.2:c.2054C>T	XP_011522215.1:p.Pro685Leu
XM_017024709.1:c.2099C>T	XP_016880198.1:p.Pro700Leu
NM_015721.3:c.2087C>T MANE Select	NP_056536.2:p.Pro696Leu