Canonical Allele Identifier: CA401523144

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868877-C-G
• MyVariant Identifiers: chr17:g.79826753C>G (hg19) ; chr17:g.81868877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868877C>G , CM000679.2:g.81868877C>G	GRCh38
NC_000017.10:g.79826753C>G , CM000679.1:g.79826753C>G	GRCh37
NC_000017.9:g.77420042C>G	NCBI36
NG_034210.1:g.7530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.614G>C MANE Select	ENSP00000269321.7:p.Ter205Ser
ENST00000269321.11:c.614G>C	ENSP00000269321.7:p.Ter205Ser
ENST00000400721.8:c.482G>C	ENSP00000383556.4:p.Ter161Ser
ENST00000541078.6:c.614G>C	ENSP00000441348.2:p.Ter205Ser
ENST00000579121.5:c.502+112G>C	ENSP00000462960.1:n.502+112G>C
ENST00000580685.5:c.614G>C	ENSP00000464205.1:p.Ter205Ser
ENST00000581876.5:c.389G>C	ENSP00000461956.1:p.Ter130Ser
ENST00000582984.5:n.816G>C
ENST00000583868.5:c.502G>C	ENSP00000462209.1:p.Glu168Gln
ENST00000584461.5:c.502+112G>C	ENSP00000463939.1:n.502+112G>C
NM_001185077.2:c.614G>C	NP_001172006.1:p.Ter205Ser
NM_001185078.2:c.482G>C	NP_001172007.1:p.Ter161Ser
NM_001301240.1:c.502+112G>C	NP_001288169.1:n.502+112G>C
NM_001301241.1:c.502+112G>C	NP_001288170.1:n.502+112G>C
NM_001301242.1:c.502G>C	NP_001288171.1:p.Glu168Gln
NM_001301243.1:c.749G>C	NP_001288172.1:p.Ter250Ser
NM_004309.5:c.614G>C	NP_004300.1:p.Ter205Ser
NR_125441.1:n.673G>C
XM_011523574.1:c.749G>C	XP_011521876.1:p.Ter250Ser
NM_004309.6:c.614G>C MANE Select	NP_004300.1:p.Ter205Ser
NM_001185077.3:c.614G>C	NP_001172006.1:p.Ter205Ser
NM_001185078.3:c.482G>C	NP_001172007.1:p.Ter161Ser
NM_001301240.2:c.502+112G>C	NP_001288169.1:n.502+112G>C
NM_001301241.2:c.502+112G>C	NP_001288170.1:n.502+112G>C
NM_001301242.2:c.502G>C	NP_001288171.1:p.Glu168Gln
NM_001301243.2:c.749G>C	NP_001288172.1:p.Ter250Ser
NR_125441.2:n.604G>C