Canonical Allele Identifier: CA415202605

Gene: GDI1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154439047T>C , CM000685.2:g.154439047T>C	GRCh38
NC_000023.10:g.153667393T>C , CM000685.1:g.153667393T>C	GRCh37
NC_000023.9:g.153320587T>C	NCBI36
NG_008954.1:g.7135T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001493.3:c.295T>C MANE Select	NP_001484.1:p.Tyr99His
ENST00000447750.7:c.295T>C MANE Select	ENSP00000394071.2:p.Tyr99His
NM_001493.2:c.295T>C	NP_001484.1:p.Tyr99His
ENST00000415109.5:c.*325T>C	ENSP00000396215.1:n.*325T>C
ENST00000434049.1:c.295T>C	ENSP00000416195.1:p.Tyr99His
ENST00000445564.5:c.*219T>C	ENSP00000394752.1:n.*219T>C
ENST00000447750.6:c.295T>C	ENSP00000394071.2:p.Tyr99His
ENST00000475976.5:n.396T>C
ENST00000481304.5:n.361T>C
ENST00000485143.5:n.533T>C
ENST00000491154.1:n.767T>C
ENST00000630693.2:c.295T>C	ENSP00000486715.1:p.Tyr99His