Canonical Allele Identifier: CA360808837

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728212A>T (hg19) ; chr5:g.132392520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392520A>T , CM000667.2:g.132392520A>T	GRCh38
NC_000005.9:g.131728212A>T , CM000667.1:g.131728212A>T	GRCh37
NC_000005.8:g.131756111A>T	NCBI36
NG_008982.1:g.27812A>T
NG_008982.2:g.27817A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1196A>T	ENSP00000388838.2:p.Glu399Val
ENST00000435065.7:c.1427A>T	ENSP00000402760.2:p.Glu476Val
ENST00000448810.6:c.*207A>T	ENSP00000401860.2:n.*207A>T
ENST00000685543.1:n.1496A>T
ENST00000686757.1:c.*519A>T	ENSP00000510721.1:n.*519A>T
ENST00000687740.1:n.4040A>T
ENST00000688151.1:n.2665A>T
ENST00000689271.1:c.1202A>T	ENSP00000510797.1:p.Glu401Val
ENST00000690900.1:c.*519A>T	ENSP00000510703.1:n.*519A>T
ENST00000692212.1:n.4495A>T
ENST00000692355.1:c.608A>T
ENST00000692413.1:c.1337A>T	ENSP00000509374.1:p.Glu446Val
ENST00000692825.1:c.1423A>T	ENSP00000509447.1:n.1423A>T
ENST00000693308.1:c.1403A>T	ENSP00000509770.1:p.Glu468Val
ENST00000693763.1:n.2515A>T
ENST00000245407.8:c.1355A>T MANE Select	ENSP00000245407.3:p.Glu452Val
ENST00000245407.7:c.1355A>T	ENSP00000245407.3:p.Glu452Val
ENST00000435065.6:c.1427A>T	ENSP00000402760.2:p.Glu476Val
ENST00000447841.5:c.199A>T
ENST00000448810.5:c.617A>T
ENST00000461013.5:n.8777A>T
ENST00000475308.1:n.2033A>T
ENST00000479605.5:n.458A>T
NM_001308122.1:c.1427A>T	NP_001295051.1:p.Glu476Val
NM_003060.3:c.1355A>T	NP_003051.1:p.Glu452Val
XM_011543590.1:c.737A>T	XP_011541892.1:p.Glu246Val
XR_948290.1:n.1481A>T
XM_011543590.2:c.737A>T	XP_011541892.1:p.Glu246Val
XM_017009778.2:c.827A>T	XP_016865267.1:p.Glu276Val
XR_001742215.1:n.1610A>T
XR_001742216.1:n.1629A>T
XR_427718.2:n.1715A>T
XR_948290.2:n.1481A>T
XR_948291.2:n.1709A>T
NM_003060.4:c.1355A>T MANE Select	NP_003051.1:p.Glu452Val
NM_001308122.2:c.1427A>T	NP_001295051.1:p.Glu476Val