Canonical Allele Identifier: CA401524023

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1427912761
• gnomAD v2: 17-79826924-C-T
• gnomAD v4: 17-81869048-C-T
• MyVariant Identifiers: chr17:g.79826924C>T (hg19) ; chr17:g.81869048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869048C>T , CM000679.2:g.81869048C>T	GRCh38
NC_000017.10:g.79826924C>T , CM000679.1:g.79826924C>T	GRCh37
NC_000017.9:g.77420213C>T	NCBI36
NG_034210.1:g.7359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.443G>A MANE Select	ENSP00000269321.7:p.Ser148Asn
ENST00000269321.11:c.443G>A	ENSP00000269321.7:p.Ser148Asn
ENST00000400721.8:c.416-105G>A	ENSP00000383556.4:n.416-105G>A
ENST00000541078.6:c.443G>A	ENSP00000441348.2:p.Ser148Asn
ENST00000579121.5:c.443G>A	ENSP00000462960.1:p.Ser148Asn
ENST00000580033.5:c.*87G>A	ENSP00000463530.1:n.*87G>A
ENST00000580685.5:c.443G>A	ENSP00000464205.1:p.Ser148Asn
ENST00000581876.5:c.218G>A	ENSP00000461956.1:p.Ser73Asn
ENST00000582984.5:n.645G>A
ENST00000583791.1:n.307G>A
ENST00000583868.5:c.435+8G>A	ENSP00000462209.1:n.435+8G>A
ENST00000584461.5:c.443G>A	ENSP00000463939.1:p.Ser148Asn
NM_001185077.2:c.443G>A	NP_001172006.1:p.Ser148Asn
NM_001185078.2:c.416-105G>A	NP_001172007.1:n.416-105G>A
NM_001301240.1:c.443G>A	NP_001288169.1:p.Ser148Asn
NM_001301241.1:c.443G>A	NP_001288170.1:p.Ser148Asn
NM_001301242.1:c.435+8G>A	NP_001288171.1:n.435+8G>A
NM_001301243.1:c.578G>A	NP_001288172.1:p.Ser193Asn
NM_004309.5:c.443G>A	NP_004300.1:p.Ser148Asn
NR_125441.1:n.502G>A
XM_011523574.1:c.578G>A	XP_011521876.1:p.Ser193Asn
NM_004309.6:c.443G>A MANE Select	NP_004300.1:p.Ser148Asn
NM_001185077.3:c.443G>A	NP_001172006.1:p.Ser148Asn
NM_001185078.3:c.416-105G>A	NP_001172007.1:n.416-105G>A
NM_001301240.2:c.443G>A	NP_001288169.1:p.Ser148Asn
NM_001301241.2:c.443G>A	NP_001288170.1:p.Ser148Asn
NM_001301242.2:c.435+8G>A	NP_001288171.1:n.435+8G>A
NM_001301243.2:c.578G>A	NP_001288172.1:p.Ser193Asn
NR_125441.2:n.433G>A