Canonical Allele Identifier: CA397503416

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1597551524
• gnomAD v4: 17-745454-C-A
• MyVariant Identifiers: chr17:g.648694C>A (hg19) ; chr17:g.745454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745454C>A , CM000679.2:g.745454C>A	GRCh38
NC_000017.10:g.648694C>A , CM000679.1:g.648694C>A	GRCh37
NC_000017.9:g.595444C>A	NCBI36
NG_046938.1:g.12419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2589G>T MANE Select	ENSP00000321706.5:p.Trp863Cys
ENST00000319004.5:c.2589G>T	ENSP00000321706.5:p.Trp863Cys
ENST00000576778.1:c.2556G>T	ENSP00000459565.1:p.Trp852Cys
NM_015721.2:c.2589G>T	NP_056536.2:p.Trp863Cys
XM_005256667.3:c.2601G>T	XP_005256724.1:p.Trp867Cys
XM_005256668.3:c.2601G>T	XP_005256725.1:p.Trp867Cys
XM_005256670.3:c.2556G>T	XP_005256727.1:p.Trp852Cys
XM_011523910.1:c.2601G>T	XP_011522212.1:p.Trp867Cys
XM_011523911.1:c.2601G>T	XP_011522213.1:p.Trp867Cys
XM_011523912.1:c.2556G>T	XP_011522214.1:p.Trp852Cys
XM_011523913.1:c.2556G>T	XP_011522215.1:p.Trp852Cys
XM_005256667.4:c.2601G>T	XP_005256724.1:p.Trp867Cys
XM_005256670.5:c.2556G>T	XP_005256727.1:p.Trp852Cys
XM_011523910.2:c.2601G>T	XP_011522212.1:p.Trp867Cys
XM_011523911.2:c.2601G>T	XP_011522213.1:p.Trp867Cys
XM_011523912.2:c.2556G>T	XP_011522214.1:p.Trp852Cys
XM_011523913.2:c.2556G>T	XP_011522215.1:p.Trp852Cys
XM_017024709.1:c.2601G>T	XP_016880198.1:p.Trp867Cys
NM_015721.3:c.2589G>T MANE Select	NP_056536.2:p.Trp863Cys