Canonical Allele Identifier: CA360807629

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2003829
• ClinVar RCV Id: RCV002811468
• gnomAD v4: 5-132390787-G-A
• MyVariant Identifiers: chr5:g.131726479G>A (hg19) ; chr5:g.132390787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390787G>A , CM000667.2:g.132390787G>A	GRCh38
NC_000005.9:g.131726479G>A , CM000667.1:g.131726479G>A	GRCh37
NC_000005.8:g.131754378G>A	NCBI36
NG_008982.1:g.26079G>A
NG_008982.2:g.26084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.991G>A	ENSP00000388838.2:p.Val331Ile
ENST00000435065.7:c.1222G>A	ENSP00000402760.2:p.Val408Ile
ENST00000448810.6:c.*2G>A	ENSP00000401860.2:n.*2G>A
ENST00000685543.1:n.1291G>A
ENST00000686757.1:c.*314G>A	ENSP00000510721.1:n.*314G>A
ENST00000687740.1:n.3835G>A
ENST00000688151.1:n.2460G>A
ENST00000689271.1:c.997G>A	ENSP00000510797.1:p.Val333Ile
ENST00000690900.1:c.*314G>A	ENSP00000510703.1:n.*314G>A
ENST00000692212.1:n.2762G>A
ENST00000692355.1:c.403G>A
ENST00000692413.1:c.1132G>A	ENSP00000509374.1:p.Val378Ile
ENST00000692825.1:c.1218G>A	ENSP00000509447.1:n.1218G>A
ENST00000693308.1:c.1198G>A	ENSP00000509770.1:p.Val400Ile
ENST00000693763.1:n.2310G>A
ENST00000245407.8:c.1150G>A MANE Select	ENSP00000245407.3:p.Val384Ile
ENST00000245407.7:c.1150G>A	ENSP00000245407.3:p.Val384Ile
ENST00000435065.6:c.1222G>A	ENSP00000402760.2:p.Val408Ile
ENST00000447841.5:c.112-1646G>A
ENST00000448810.5:c.412G>A
ENST00000461013.5:n.8572G>A
ENST00000475308.1:n.1828G>A
ENST00000479605.5:n.253G>A
NM_001308122.1:c.1222G>A	NP_001295051.1:p.Val408Ile
NM_003060.3:c.1150G>A	NP_003051.1:p.Val384Ile
XM_011543590.1:c.532G>A	XP_011541892.1:p.Val178Ile
XR_427718.1:n.1510G>A
XR_948290.1:n.1394-1646G>A
XR_948291.1:n.1504G>A
XM_011543590.2:c.532G>A	XP_011541892.1:p.Val178Ile
XM_017009778.2:c.622G>A	XP_016865267.1:p.Val208Ile
XR_001742215.1:n.1405G>A
XR_001742216.1:n.1424G>A
XR_427718.2:n.1510G>A
XR_948290.2:n.1394-1646G>A
XR_948291.2:n.1504G>A
NM_003060.4:c.1150G>A MANE Select	NP_003051.1:p.Val384Ile
NM_001308122.2:c.1222G>A	NP_001295051.1:p.Val408Ile