Canonical Allele Identifier: CA360809858

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729442C>T (hg19) ; chr5:g.132393750C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-435C>T	ENSP00000388838.2:n.1292-435C>T
ENST00000435065.7:c.1597C>T	ENSP00000402760.2:p.Leu533Phe
ENST00000448810.6:c.*377C>T	ENSP00000401860.2:n.*377C>T
ENST00000685543.1:n.1666C>T
ENST00000686757.1:c.*689C>T	ENSP00000510721.1:n.*689C>T
ENST00000686868.1:n.517C>T
ENST00000687740.1:n.4210C>T
ENST00000688151.1:n.2835C>T
ENST00000689271.1:c.1372C>T	ENSP00000510797.1:p.Leu458Phe
ENST00000690900.1:c.*689C>T	ENSP00000510703.1:n.*689C>T
ENST00000692212.1:n.4665C>T
ENST00000692355.1:c.778C>T
ENST00000692413.1:c.1507C>T	ENSP00000509374.1:p.Leu503Phe
ENST00000692825.1:c.1593C>T	ENSP00000509447.1:n.1593C>T
ENST00000693308.1:c.1573C>T	ENSP00000509770.1:p.Leu525Phe
ENST00000693763.1:n.2685C>T
ENST00000245407.8:c.1525C>T MANE Select	ENSP00000245407.3:p.Leu509Phe
ENST00000245407.7:c.1525C>T	ENSP00000245407.3:p.Leu509Phe
ENST00000435065.6:c.1597C>T	ENSP00000402760.2:p.Leu533Phe
ENST00000447841.5:c.369C>T
ENST00000448810.5:c.787C>T
ENST00000461013.5:n.8947C>T
ENST00000475308.1:n.2203C>T
NM_001308122.1:c.1597C>T	NP_001295051.1:p.Leu533Phe
NM_003060.3:c.1525C>T	NP_003051.1:p.Leu509Phe
XM_011543590.1:c.907C>T	XP_011541892.1:p.Leu303Phe
XR_948290.1:n.1651C>T
XM_011543590.2:c.907C>T	XP_011541892.1:p.Leu303Phe
XM_017009778.2:c.997C>T	XP_016865267.1:p.Leu333Phe
XR_001742215.1:n.1780C>T
XR_001742216.1:n.1799C>T
XR_427718.2:n.1885C>T
XR_948290.2:n.1651C>T
XR_948291.2:n.1879C>T
NM_003060.4:c.1525C>T MANE Select	NP_003051.1:p.Leu509Phe
NM_001308122.2:c.1597C>T	NP_001295051.1:p.Leu533Phe