Canonical Allele Identifier: CA8262430

Gene: GEMIN4

Linked Data

• dbSNP Id: rs758208669
• ExAC: 17:648895 A / G
• gnomAD v2: 17-648895-A-G
• gnomAD v4: 17-745655-A-G
• MyVariant Identifiers: chr17:g.648895A>G (hg19) ; chr17:g.745655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745655A>G , CM000679.2:g.745655A>G	GRCh38
NC_000017.10:g.648895A>G , CM000679.1:g.648895A>G	GRCh37
NC_000017.9:g.595645A>G	NCBI36
NG_046938.1:g.12218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2388T>C MANE Select	ENSP00000321706.5:p.Leu796=
ENST00000319004.5:c.2388T>C	ENSP00000321706.5:p.Leu796=
ENST00000576778.1:c.2355T>C	ENSP00000459565.1:p.Leu785=
NM_015721.2:c.2388T>C	NP_056536.2:p.Leu796=
XM_005256667.3:c.2400T>C	XP_005256724.1:p.Leu800=
XM_005256668.3:c.2400T>C	XP_005256725.1:p.Leu800=
XM_005256670.3:c.2355T>C	XP_005256727.1:p.Leu785=
XM_011523910.1:c.2400T>C	XP_011522212.1:p.Leu800=
XM_011523911.1:c.2400T>C	XP_011522213.1:p.Leu800=
XM_011523912.1:c.2355T>C	XP_011522214.1:p.Leu785=
XM_011523913.1:c.2355T>C	XP_011522215.1:p.Leu785=
XM_005256667.4:c.2400T>C	XP_005256724.1:p.Leu800=
XM_005256670.5:c.2355T>C	XP_005256727.1:p.Leu785=
XM_011523910.2:c.2400T>C	XP_011522212.1:p.Leu800=
XM_011523911.2:c.2400T>C	XP_011522213.1:p.Leu800=
XM_011523912.2:c.2355T>C	XP_011522214.1:p.Leu785=
XM_011523913.2:c.2355T>C	XP_011522215.1:p.Leu785=
XM_017024709.1:c.2400T>C	XP_016880198.1:p.Leu800=
NM_015721.3:c.2388T>C MANE Select	NP_056536.2:p.Leu796=