Canonical Allele Identifier: CA174736

Gene: ARAP3

Linked Data

• ClinVar Variation Id: 161761
• ClinVar RCV Id: RCV000149297
• dbSNP Id: rs145752053
• ExAC: 5:141041817 G / A
• gnomAD v2: 5-141041817-G-A
• gnomAD v3: 5-141662250-G-A
• gnomAD v4: 5-141662250-G-A
• COSMIC: COSM1179696
• MyVariant Identifiers: chr5:g.141041817G>A (hg19) ; chr5:g.141662250G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141662250G>A , CM000667.2:g.141662250G>A	GRCh38
NC_000005.9:g.141041817G>A , CM000667.1:g.141041817G>A	GRCh37
NC_000005.8:g.141022001G>A	NCBI36
NG_046966.1:g.24984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239440.9:c.2806C>T MANE Select	ENSP00000239440.4:p.Arg936Trp
ENST00000239440.8:c.2806C>T	ENSP00000239440.4:p.Arg936Trp
ENST00000508305.5:c.2507-461C>T	ENSP00000421826.1:n.2507-461C>T
ENST00000512390.1:n.555C>T
ENST00000513878.5:c.1792C>T	ENSP00000421468.1:p.Arg598Trp
ENST00000626478.2:c.2507-461C>T	ENSP00000486980.1:n.2507-461C>T
NM_022481.5:c.2806C>T	NP_071926.4:p.Arg936Trp
XM_005268497.1:c.2806C>T	XP_005268554.1:p.Arg936Trp
XM_005268498.1:c.2806C>T	XP_005268555.1:p.Arg936Trp
XM_005268499.1:c.2572C>T	XP_005268556.1:p.Arg858Trp
XM_006714792.1:c.2801-461C>T	XP_006714855.1:n.2801-461C>T
XM_011537677.1:c.2221C>T	XP_011535979.1:p.Arg741Trp
XR_944326.1:n.2733C>T
XR_944328.1:n.2728-461C>T
XR_944329.1:n.2945C>T
XM_005268497.2:c.2806C>T	XP_005268554.1:p.Arg936Trp
XM_005268498.2:c.2806C>T	XP_005268555.1:p.Arg936Trp
XM_006714792.2:c.2801-461C>T	XP_006714855.1:n.2801-461C>T
XM_011537677.2:c.2221C>T	XP_011535979.1:p.Arg741Trp
XR_944329.3:n.2974C>T
NM_022481.6:c.2806C>T MANE Select	NP_071926.4:p.Arg936Trp