Canonical Allele Identifier: CA8262412

Gene: GEMIN4

Linked Data

• ClinVar Variation Id: 3099349
• ClinVar RCV Id: RCV004387695
• dbSNP Id: rs778534939
• ExAC: 17:648809 G / T
• gnomAD v2: 17-648809-G-T
• gnomAD v3: 17-745569-G-T
• gnomAD v4: 17-745569-G-T
• MyVariant Identifiers: chr17:g.648809G>T (hg19) ; chr17:g.745569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745569G>T , CM000679.2:g.745569G>T	GRCh38
NC_000017.10:g.648809G>T , CM000679.1:g.648809G>T	GRCh37
NC_000017.9:g.595559G>T	NCBI36
NG_046938.1:g.12304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2474C>A MANE Select	ENSP00000321706.5:p.Ser825Tyr
ENST00000319004.5:c.2474C>A	ENSP00000321706.5:p.Ser825Tyr
ENST00000576778.1:c.2441C>A	ENSP00000459565.1:p.Ser814Tyr
NM_015721.2:c.2474C>A	NP_056536.2:p.Ser825Tyr
XM_005256667.3:c.2486C>A	XP_005256724.1:p.Ser829Tyr
XM_005256668.3:c.2486C>A	XP_005256725.1:p.Ser829Tyr
XM_005256670.3:c.2441C>A	XP_005256727.1:p.Ser814Tyr
XM_011523910.1:c.2486C>A	XP_011522212.1:p.Ser829Tyr
XM_011523911.1:c.2486C>A	XP_011522213.1:p.Ser829Tyr
XM_011523912.1:c.2441C>A	XP_011522214.1:p.Ser814Tyr
XM_011523913.1:c.2441C>A	XP_011522215.1:p.Ser814Tyr
XM_005256667.4:c.2486C>A	XP_005256724.1:p.Ser829Tyr
XM_005256670.5:c.2441C>A	XP_005256727.1:p.Ser814Tyr
XM_011523910.2:c.2486C>A	XP_011522212.1:p.Ser829Tyr
XM_011523911.2:c.2486C>A	XP_011522213.1:p.Ser829Tyr
XM_011523912.2:c.2441C>A	XP_011522214.1:p.Ser814Tyr
XM_011523913.2:c.2441C>A	XP_011522215.1:p.Ser814Tyr
XM_017024709.1:c.2486C>A	XP_016880198.1:p.Ser829Tyr
NM_015721.3:c.2474C>A MANE Select	NP_056536.2:p.Ser825Tyr