Canonical Allele Identifier: CA401523561

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 2312587
• ClinVar RCV Id: RCV002887832
• dbSNP Id: rs2039165895
• gnomAD v4: 17-81868931-G-T
• MyVariant Identifiers: chr17:g.79826807G>T (hg19) ; chr17:g.81868931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868931G>T , CM000679.2:g.81868931G>T	GRCh38
NC_000017.10:g.79826807G>T , CM000679.1:g.79826807G>T	GRCh37
NC_000017.9:g.77420096G>T	NCBI36
NG_034210.1:g.7476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.560C>A MANE Select	ENSP00000269321.7:p.Thr187Asn
ENST00000269321.11:c.560C>A	ENSP00000269321.7:p.Thr187Asn
ENST00000400721.8:c.428C>A	ENSP00000383556.4:p.Thr143Asn
ENST00000541078.6:c.560C>A	ENSP00000441348.2:p.Thr187Asn
ENST00000579121.5:c.502+58C>A	ENSP00000462960.1:n.502+58C>A
ENST00000580033.5:c.*204C>A	ENSP00000463530.1:n.*204C>A
ENST00000580685.5:c.560C>A	ENSP00000464205.1:p.Thr187Asn
ENST00000581876.5:c.335C>A	ENSP00000461956.1:p.Thr112Asn
ENST00000582984.5:n.762C>A
ENST00000583868.5:c.448C>A	ENSP00000462209.1:p.Pro150Thr
ENST00000584461.5:c.502+58C>A	ENSP00000463939.1:n.502+58C>A
NM_001185077.2:c.560C>A	NP_001172006.1:p.Thr187Asn
NM_001185078.2:c.428C>A	NP_001172007.1:p.Thr143Asn
NM_001301240.1:c.502+58C>A	NP_001288169.1:n.502+58C>A
NM_001301241.1:c.502+58C>A	NP_001288170.1:n.502+58C>A
NM_001301242.1:c.448C>A	NP_001288171.1:p.Pro150Thr
NM_001301243.1:c.695C>A	NP_001288172.1:p.Thr232Asn
NM_004309.5:c.560C>A	NP_004300.1:p.Thr187Asn
NR_125441.1:n.619C>A
XM_011523574.1:c.695C>A	XP_011521876.1:p.Thr232Asn
NM_004309.6:c.560C>A MANE Select	NP_004300.1:p.Thr187Asn
NM_001185077.3:c.560C>A	NP_001172006.1:p.Thr187Asn
NM_001185078.3:c.428C>A	NP_001172007.1:p.Thr143Asn
NM_001301240.2:c.502+58C>A	NP_001288169.1:n.502+58C>A
NM_001301241.2:c.502+58C>A	NP_001288170.1:n.502+58C>A
NM_001301242.2:c.448C>A	NP_001288171.1:p.Pro150Thr
NM_001301243.2:c.695C>A	NP_001288172.1:p.Thr232Asn
NR_125441.2:n.550C>A