Canonical Allele Identifier: CA397503591

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1191153219
• gnomAD v2: 17-648758-T-C
• gnomAD v3: 17-745518-T-C
• gnomAD v4: 17-745518-T-C
• MyVariant Identifiers: chr17:g.648758T>C (hg19) ; chr17:g.745518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745518T>C , CM000679.2:g.745518T>C	GRCh38
NC_000017.10:g.648758T>C , CM000679.1:g.648758T>C	GRCh37
NC_000017.9:g.595508T>C	NCBI36
NG_046938.1:g.12355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2525A>G MANE Select	ENSP00000321706.5:p.Asn842Ser
ENST00000319004.5:c.2525A>G	ENSP00000321706.5:p.Asn842Ser
ENST00000576778.1:c.2492A>G	ENSP00000459565.1:p.Asn831Ser
NM_015721.2:c.2525A>G	NP_056536.2:p.Asn842Ser
XM_005256667.3:c.2537A>G	XP_005256724.1:p.Asn846Ser
XM_005256668.3:c.2537A>G	XP_005256725.1:p.Asn846Ser
XM_005256670.3:c.2492A>G	XP_005256727.1:p.Asn831Ser
XM_011523910.1:c.2537A>G	XP_011522212.1:p.Asn846Ser
XM_011523911.1:c.2537A>G	XP_011522213.1:p.Asn846Ser
XM_011523912.1:c.2492A>G	XP_011522214.1:p.Asn831Ser
XM_011523913.1:c.2492A>G	XP_011522215.1:p.Asn831Ser
XM_005256667.4:c.2537A>G	XP_005256724.1:p.Asn846Ser
XM_005256670.5:c.2492A>G	XP_005256727.1:p.Asn831Ser
XM_011523910.2:c.2537A>G	XP_011522212.1:p.Asn846Ser
XM_011523911.2:c.2537A>G	XP_011522213.1:p.Asn846Ser
XM_011523912.2:c.2492A>G	XP_011522214.1:p.Asn831Ser
XM_011523913.2:c.2492A>G	XP_011522215.1:p.Asn831Ser
XM_017024709.1:c.2537A>G	XP_016880198.1:p.Asn846Ser
NM_015721.3:c.2525A>G MANE Select	NP_056536.2:p.Asn842Ser