Canonical Allele Identifier: CA8262458

Gene: GEMIN4

Linked Data

• dbSNP Id: rs759995757
• ExAC: 17:649072 A / C
• gnomAD v2: 17-649072-A-C
• gnomAD v4: 17-745832-A-C
• MyVariant Identifiers: chr17:g.649072A>C (hg19) ; chr17:g.745832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745832A>C , CM000679.2:g.745832A>C	GRCh38
NC_000017.10:g.649072A>C , CM000679.1:g.649072A>C	GRCh37
NC_000017.9:g.595822A>C	NCBI36
NG_046938.1:g.12041T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000319004.6:c.2211T>G MANE Select	ENSP00000321706.5:p.Cys737Trp
ENST00000319004.5:c.2211T>G	ENSP00000321706.5:p.Cys737Trp
ENST00000576778.1:c.2178T>G	ENSP00000459565.1:p.Cys726Trp
NM_015721.2:c.2211T>G	NP_056536.2:p.Cys737Trp
XM_005256667.3:c.2223T>G	XP_005256724.1:p.Cys741Trp
XM_005256668.3:c.2223T>G	XP_005256725.1:p.Cys741Trp
XM_005256670.3:c.2178T>G	XP_005256727.1:p.Cys726Trp
XM_011523910.1:c.2223T>G	XP_011522212.1:p.Cys741Trp
XM_011523911.1:c.2223T>G	XP_011522213.1:p.Cys741Trp
XM_011523912.1:c.2178T>G	XP_011522214.1:p.Cys726Trp
XM_011523913.1:c.2178T>G	XP_011522215.1:p.Cys726Trp
XM_005256667.4:c.2223T>G	XP_005256724.1:p.Cys741Trp
XM_005256670.5:c.2178T>G	XP_005256727.1:p.Cys726Trp
XM_011523910.2:c.2223T>G	XP_011522212.1:p.Cys741Trp
XM_011523911.2:c.2223T>G	XP_011522213.1:p.Cys741Trp
XM_011523912.2:c.2178T>G	XP_011522214.1:p.Cys726Trp
XM_011523913.2:c.2178T>G	XP_011522215.1:p.Cys726Trp
XM_017024709.1:c.2223T>G	XP_016880198.1:p.Cys741Trp
NM_015721.3:c.2211T>G MANE Select	NP_056536.2:p.Cys737Trp