Canonical Allele Identifier: CA446345635

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729387G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393695G>A , CM000667.2:g.132393695G>A	GRCh38
NC_000005.9:g.131729387G>A , CM000667.1:g.131729387G>A	GRCh37
NC_000005.8:g.131757286G>A	NCBI36
NG_008982.1:g.28987G>A
NG_008982.2:g.28992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-490G>A	ENSP00000388838.2:n.1292-490G>A
ENST00000435065.7:c.1542G>A	ENSP00000402760.2:p.Leu514=
ENST00000448810.6:c.*322G>A	ENSP00000401860.2:n.*322G>A
ENST00000685543.1:n.1611G>A
ENST00000686757.1:c.*634G>A	ENSP00000510721.1:n.*634G>A
ENST00000686868.1:n.462G>A
ENST00000687740.1:n.4155G>A
ENST00000688151.1:n.2780G>A
ENST00000689271.1:c.1317G>A	ENSP00000510797.1:p.Leu439=
ENST00000690900.1:c.*634G>A	ENSP00000510703.1:n.*634G>A
ENST00000692212.1:n.4610G>A
ENST00000692355.1:c.723G>A
ENST00000692413.1:c.1452G>A	ENSP00000509374.1:p.Leu484=
ENST00000692825.1:c.1538G>A	ENSP00000509447.1:n.1538G>A
ENST00000693308.1:c.1518G>A	ENSP00000509770.1:p.Leu506=
ENST00000693763.1:n.2630G>A
ENST00000245407.8:c.1470G>A MANE Select	ENSP00000245407.3:p.Leu490=
ENST00000245407.7:c.1470G>A	ENSP00000245407.3:p.Leu490=
ENST00000435065.6:c.1542G>A	ENSP00000402760.2:p.Leu514=
ENST00000447841.5:c.314G>A
ENST00000448810.5:c.732G>A
ENST00000461013.5:n.8892G>A
ENST00000475308.1:n.2148G>A
NM_001308122.1:c.1542G>A	NP_001295051.1:p.Leu514=
NM_003060.3:c.1470G>A	NP_003051.1:p.Leu490=
XM_011543590.1:c.852G>A	XP_011541892.1:p.Leu284=
XR_948290.1:n.1596G>A
XM_011543590.2:c.852G>A	XP_011541892.1:p.Leu284=
XM_017009778.2:c.942G>A	XP_016865267.1:p.Leu314=
XR_001742215.1:n.1725G>A
XR_001742216.1:n.1744G>A
XR_427718.2:n.1830G>A
XR_948290.2:n.1596G>A
XR_948291.2:n.1824G>A
NM_003060.4:c.1470G>A MANE Select	NP_003051.1:p.Leu490=
NM_001308122.2:c.1542G>A	NP_001295051.1:p.Leu514=