Canonical Allele Identifier: CA360807769

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726548C>A (hg19) ; chr5:g.132390856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390856C>A , CM000667.2:g.132390856C>A	GRCh38
NC_000005.9:g.131726548C>A , CM000667.1:g.131726548C>A	GRCh37
NC_000005.8:g.131754447C>A	NCBI36
NG_008982.1:g.26148C>A
NG_008982.2:g.26153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1060C>A	ENSP00000388838.2:p.Leu354Ile
ENST00000435065.7:c.1291C>A	ENSP00000402760.2:p.Leu431Ile
ENST00000448810.6:c.*71C>A	ENSP00000401860.2:n.*71C>A
ENST00000685543.1:n.1360C>A
ENST00000686757.1:c.*383C>A	ENSP00000510721.1:n.*383C>A
ENST00000687740.1:n.3904C>A
ENST00000688151.1:n.2529C>A
ENST00000689271.1:c.1066C>A	ENSP00000510797.1:p.Leu356Ile
ENST00000690900.1:c.*383C>A	ENSP00000510703.1:n.*383C>A
ENST00000692212.1:n.2831C>A
ENST00000692355.1:c.472C>A
ENST00000692413.1:c.1201C>A	ENSP00000509374.1:p.Leu401Ile
ENST00000692825.1:c.1287C>A	ENSP00000509447.1:n.1287C>A
ENST00000693308.1:c.1267C>A	ENSP00000509770.1:p.Leu423Ile
ENST00000693763.1:n.2379C>A
ENST00000245407.8:c.1219C>A MANE Select	ENSP00000245407.3:p.Leu407Ile
ENST00000245407.7:c.1219C>A	ENSP00000245407.3:p.Leu407Ile
ENST00000435065.6:c.1291C>A	ENSP00000402760.2:p.Leu431Ile
ENST00000447841.5:c.112-1577C>A
ENST00000448810.5:c.481C>A
ENST00000461013.5:n.8641C>A
ENST00000475308.1:n.1897C>A
ENST00000479605.5:n.322C>A
NM_001308122.1:c.1291C>A	NP_001295051.1:p.Leu431Ile
NM_003060.3:c.1219C>A	NP_003051.1:p.Leu407Ile
XM_011543590.1:c.601C>A	XP_011541892.1:p.Leu201Ile
XR_427718.1:n.1579C>A
XR_948290.1:n.1394-1577C>A
XR_948291.1:n.1573C>A
XM_011543590.2:c.601C>A	XP_011541892.1:p.Leu201Ile
XM_017009778.2:c.691C>A	XP_016865267.1:p.Leu231Ile
XR_001742215.1:n.1474C>A
XR_001742216.1:n.1493C>A
XR_427718.2:n.1579C>A
XR_948290.2:n.1394-1577C>A
XR_948291.2:n.1573C>A
NM_003060.4:c.1219C>A MANE Select	NP_003051.1:p.Leu407Ile
NM_001308122.2:c.1291C>A	NP_001295051.1:p.Leu431Ile