Canonical Allele Identifier: CA397505777

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1205948142
• gnomAD v2: 17-649221-A-G
• MyVariant Identifiers: chr17:g.649221A>G (hg19) ; chr17:g.745981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745981A>G , CM000679.2:g.745981A>G	GRCh38
NC_000017.10:g.649221A>G , CM000679.1:g.649221A>G	GRCh37
NC_000017.9:g.595971A>G	NCBI36
NG_046938.1:g.11892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2062T>C MANE Select	ENSP00000321706.5:p.Trp688Arg
ENST00000319004.5:c.2062T>C	ENSP00000321706.5:p.Trp688Arg
ENST00000576778.1:c.2029T>C	ENSP00000459565.1:p.Trp677Arg
NM_015721.2:c.2062T>C	NP_056536.2:p.Trp688Arg
XM_005256667.3:c.2074T>C	XP_005256724.1:p.Trp692Arg
XM_005256668.3:c.2074T>C	XP_005256725.1:p.Trp692Arg
XM_005256670.3:c.2029T>C	XP_005256727.1:p.Trp677Arg
XM_011523910.1:c.2074T>C	XP_011522212.1:p.Trp692Arg
XM_011523911.1:c.2074T>C	XP_011522213.1:p.Trp692Arg
XM_011523912.1:c.2029T>C	XP_011522214.1:p.Trp677Arg
XM_011523913.1:c.2029T>C	XP_011522215.1:p.Trp677Arg
XM_005256667.4:c.2074T>C	XP_005256724.1:p.Trp692Arg
XM_005256670.5:c.2029T>C	XP_005256727.1:p.Trp677Arg
XM_011523910.2:c.2074T>C	XP_011522212.1:p.Trp692Arg
XM_011523911.2:c.2074T>C	XP_011522213.1:p.Trp692Arg
XM_011523912.2:c.2029T>C	XP_011522214.1:p.Trp677Arg
XM_011523913.2:c.2029T>C	XP_011522215.1:p.Trp677Arg
XM_017024709.1:c.2074T>C	XP_016880198.1:p.Trp692Arg
NM_015721.3:c.2062T>C MANE Select	NP_056536.2:p.Trp688Arg