Canonical Allele Identifier: CA3404195

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 657702
• ClinVar RCV Id: RCV000814366
• dbSNP Id: rs768925240
• ExAC: 5:131729469 C / G
• gnomAD v2: 5-131729469-C-G
• gnomAD v3: 5-132393777-C-G
• gnomAD v4: 5-132393777-C-G
• MyVariant Identifiers: chr5:g.131729469C>G (hg19) ; chr5:g.132393777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393777C>G , CM000667.2:g.132393777C>G	GRCh38
NC_000005.9:g.131729469C>G , CM000667.1:g.131729469C>G	GRCh37
NC_000005.8:g.131757368C>G	NCBI36
NG_008982.1:g.29069C>G
NG_008982.2:g.29074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-408C>G	ENSP00000388838.2:n.1292-408C>G
ENST00000435065.7:c.1624C>G	ENSP00000402760.2:p.Pro542Ala
ENST00000448810.6:c.*404C>G	ENSP00000401860.2:n.*404C>G
ENST00000685543.1:n.1693C>G
ENST00000686757.1:c.*716C>G	ENSP00000510721.1:n.*716C>G
ENST00000686868.1:n.544C>G
ENST00000687740.1:n.4237C>G
ENST00000688151.1:n.2862C>G
ENST00000689271.1:c.1399C>G	ENSP00000510797.1:p.Pro467Ala
ENST00000690900.1:c.*716C>G	ENSP00000510703.1:n.*716C>G
ENST00000692212.1:n.4692C>G
ENST00000692355.1:c.805C>G
ENST00000692413.1:c.1534C>G	ENSP00000509374.1:p.Pro512Ala
ENST00000692825.1:c.1620C>G	ENSP00000509447.1:n.1620C>G
ENST00000693308.1:c.1600C>G	ENSP00000509770.1:p.Pro534Ala
ENST00000693763.1:n.2712C>G
ENST00000245407.8:c.1552C>G MANE Select	ENSP00000245407.3:p.Pro518Ala
ENST00000245407.7:c.1552C>G	ENSP00000245407.3:p.Pro518Ala
ENST00000435065.6:c.1624C>G	ENSP00000402760.2:p.Pro542Ala
ENST00000447841.5:c.396C>G
ENST00000448810.5:c.814C>G
ENST00000461013.5:n.8974C>G
ENST00000475308.1:n.2230C>G
NM_001308122.1:c.1624C>G	NP_001295051.1:p.Pro542Ala
NM_003060.3:c.1552C>G	NP_003051.1:p.Pro518Ala
XM_011543590.1:c.934C>G	XP_011541892.1:p.Pro312Ala
XR_948290.1:n.1678C>G
XM_011543590.2:c.934C>G	XP_011541892.1:p.Pro312Ala
XM_017009778.2:c.1024C>G	XP_016865267.1:p.Pro342Ala
XR_001742215.1:n.1807C>G
XR_001742216.1:n.1826C>G
XR_427718.2:n.1912C>G
XR_948290.2:n.1678C>G
XR_948291.2:n.1906C>G
NM_003060.4:c.1552C>G MANE Select	NP_003051.1:p.Pro518Ala
NM_001308122.2:c.1624C>G	NP_001295051.1:p.Pro542Ala