Canonical Allele Identifier: CA360809857

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393750-C-G
• MyVariant Identifiers: chr5:g.131729442C>G (hg19) ; chr5:g.132393750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393750C>G , CM000667.2:g.132393750C>G	GRCh38
NC_000005.9:g.131729442C>G , CM000667.1:g.131729442C>G	GRCh37
NC_000005.8:g.131757341C>G	NCBI36
NG_008982.1:g.29042C>G
NG_008982.2:g.29047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-435C>G	ENSP00000388838.2:n.1292-435C>G
ENST00000435065.7:c.1597C>G	ENSP00000402760.2:p.Leu533Val
ENST00000448810.6:c.*377C>G	ENSP00000401860.2:n.*377C>G
ENST00000685543.1:n.1666C>G
ENST00000686757.1:c.*689C>G	ENSP00000510721.1:n.*689C>G
ENST00000686868.1:n.517C>G
ENST00000687740.1:n.4210C>G
ENST00000688151.1:n.2835C>G
ENST00000689271.1:c.1372C>G	ENSP00000510797.1:p.Leu458Val
ENST00000690900.1:c.*689C>G	ENSP00000510703.1:n.*689C>G
ENST00000692212.1:n.4665C>G
ENST00000692355.1:c.778C>G
ENST00000692413.1:c.1507C>G	ENSP00000509374.1:p.Leu503Val
ENST00000692825.1:c.1593C>G	ENSP00000509447.1:n.1593C>G
ENST00000693308.1:c.1573C>G	ENSP00000509770.1:p.Leu525Val
ENST00000693763.1:n.2685C>G
ENST00000245407.8:c.1525C>G MANE Select	ENSP00000245407.3:p.Leu509Val
ENST00000245407.7:c.1525C>G	ENSP00000245407.3:p.Leu509Val
ENST00000435065.6:c.1597C>G	ENSP00000402760.2:p.Leu533Val
ENST00000447841.5:c.369C>G
ENST00000448810.5:c.787C>G
ENST00000461013.5:n.8947C>G
ENST00000475308.1:n.2203C>G
NM_001308122.1:c.1597C>G	NP_001295051.1:p.Leu533Val
NM_003060.3:c.1525C>G	NP_003051.1:p.Leu509Val
XM_011543590.1:c.907C>G	XP_011541892.1:p.Leu303Val
XR_948290.1:n.1651C>G
XM_011543590.2:c.907C>G	XP_011541892.1:p.Leu303Val
XM_017009778.2:c.997C>G	XP_016865267.1:p.Leu333Val
XR_001742215.1:n.1780C>G
XR_001742216.1:n.1799C>G
XR_427718.2:n.1885C>G
XR_948290.2:n.1651C>G
XR_948291.2:n.1879C>G
NM_003060.4:c.1525C>G MANE Select	NP_003051.1:p.Leu509Val
NM_001308122.2:c.1597C>G	NP_001295051.1:p.Leu533Val