Canonical Allele Identifier: CA8843209

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs762850191
• ExAC: 17:79826856 C / T
• gnomAD v2: 17-79826856-C-T
• gnomAD v3: 17-81868980-C-T
• gnomAD v4: 17-81868980-C-T
• MyVariant Identifiers: chr17:g.79826856C>T (hg19) ; chr17:g.81868980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868980C>T , CM000679.2:g.81868980C>T	GRCh38
NC_000017.10:g.79826856C>T , CM000679.1:g.79826856C>T	GRCh37
NC_000017.9:g.77420145C>T	NCBI36
NG_034210.1:g.7427G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.511G>A MANE Select	ENSP00000269321.7:p.Ala171Thr
ENST00000269321.11:c.511G>A	ENSP00000269321.7:p.Ala171Thr
ENST00000400721.8:c.416-37G>A	ENSP00000383556.4:n.416-37G>A
ENST00000541078.6:c.511G>A	ENSP00000441348.2:p.Ala171Thr
ENST00000579121.5:c.502+9G>A	ENSP00000462960.1:n.502+9G>A
ENST00000580033.5:c.*155G>A	ENSP00000463530.1:n.*155G>A
ENST00000580685.5:c.511G>A	ENSP00000464205.1:p.Ala171Thr
ENST00000581876.5:c.286G>A	ENSP00000461956.1:p.Ala96Thr
ENST00000582984.5:n.713G>A
ENST00000583868.5:c.436-37G>A	ENSP00000462209.1:n.436-37G>A
ENST00000584461.5:c.502+9G>A	ENSP00000463939.1:n.502+9G>A
NM_001185077.2:c.511G>A	NP_001172006.1:p.Ala171Thr
NM_001185078.2:c.416-37G>A	NP_001172007.1:n.416-37G>A
NM_001301240.1:c.502+9G>A	NP_001288169.1:n.502+9G>A
NM_001301241.1:c.502+9G>A	NP_001288170.1:n.502+9G>A
NM_001301242.1:c.436-37G>A	NP_001288171.1:n.436-37G>A
NM_001301243.1:c.646G>A	NP_001288172.1:p.Ala216Thr
NM_004309.5:c.511G>A	NP_004300.1:p.Ala171Thr
NR_125441.1:n.570G>A
XM_011523574.1:c.646G>A	XP_011521876.1:p.Ala216Thr
NM_004309.6:c.511G>A MANE Select	NP_004300.1:p.Ala171Thr
NM_001185077.3:c.511G>A	NP_001172006.1:p.Ala171Thr
NM_001185078.3:c.416-37G>A	NP_001172007.1:n.416-37G>A
NM_001301240.2:c.502+9G>A	NP_001288169.1:n.502+9G>A
NM_001301241.2:c.502+9G>A	NP_001288170.1:n.502+9G>A
NM_001301242.2:c.436-37G>A	NP_001288171.1:n.436-37G>A
NM_001301243.2:c.646G>A	NP_001288172.1:p.Ala216Thr
NR_125441.2:n.501G>A