Canonical Allele Identifier: CA360807823

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1561575440
• MyVariant Identifiers: chr5:g.131726575T>C (hg19) ; chr5:g.132390883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390883T>C , CM000667.2:g.132390883T>C	GRCh38
NC_000005.9:g.131726575T>C , CM000667.1:g.131726575T>C	GRCh37
NC_000005.8:g.131754474T>C	NCBI36
NG_008982.1:g.26175T>C
NG_008982.2:g.26180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1087T>C	ENSP00000388838.2:p.Phe363Leu
ENST00000435065.7:c.1318T>C	ENSP00000402760.2:p.Phe440Leu
ENST00000448810.6:c.*98T>C	ENSP00000401860.2:n.*98T>C
ENST00000685543.1:n.1387T>C
ENST00000686757.1:c.*410T>C	ENSP00000510721.1:n.*410T>C
ENST00000687740.1:n.3931T>C
ENST00000688151.1:n.2556T>C
ENST00000689271.1:c.1093T>C	ENSP00000510797.1:p.Phe365Leu
ENST00000690900.1:c.*410T>C	ENSP00000510703.1:n.*410T>C
ENST00000692212.1:n.2858T>C
ENST00000692355.1:c.499T>C
ENST00000692413.1:c.1228T>C	ENSP00000509374.1:p.Phe410Leu
ENST00000692825.1:c.1314T>C	ENSP00000509447.1:n.1314T>C
ENST00000693308.1:c.1294T>C	ENSP00000509770.1:p.Phe432Leu
ENST00000693763.1:n.2406T>C
ENST00000245407.8:c.1246T>C MANE Select	ENSP00000245407.3:p.Phe416Leu
ENST00000245407.7:c.1246T>C	ENSP00000245407.3:p.Phe416Leu
ENST00000435065.6:c.1318T>C	ENSP00000402760.2:p.Phe440Leu
ENST00000447841.5:c.112-1550T>C
ENST00000448810.5:c.508T>C
ENST00000461013.5:n.8668T>C
ENST00000475308.1:n.1924T>C
ENST00000479605.5:n.349T>C
NM_001308122.1:c.1318T>C	NP_001295051.1:p.Phe440Leu
NM_003060.3:c.1246T>C	NP_003051.1:p.Phe416Leu
XM_011543590.1:c.628T>C	XP_011541892.1:p.Phe210Leu
XR_427718.1:n.1606T>C
XR_948290.1:n.1394-1550T>C
XR_948291.1:n.1600T>C
XM_011543590.2:c.628T>C	XP_011541892.1:p.Phe210Leu
XM_017009778.2:c.718T>C	XP_016865267.1:p.Phe240Leu
XR_001742215.1:n.1501T>C
XR_001742216.1:n.1520T>C
XR_427718.2:n.1606T>C
XR_948290.2:n.1394-1550T>C
XR_948291.2:n.1600T>C
NM_003060.4:c.1246T>C MANE Select	NP_003051.1:p.Phe416Leu
NM_001308122.2:c.1318T>C	NP_001295051.1:p.Phe440Leu