Canonical Allele Identifier: CA360803554

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378412C>T , CM000667.2:g.132378412C>T	GRCh38
NC_000005.9:g.131714104C>T , CM000667.1:g.131714104C>T	GRCh37
NC_000005.8:g.131742003C>T	NCBI36
NG_008982.1:g.13704C>T
NG_008982.2:g.13709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.428C>T	ENSP00000388838.2:p.Pro143Leu
ENST00000435065.7:c.500C>T	ENSP00000402760.2:p.Pro167Leu
ENST00000448810.6:c.428C>T	ENSP00000401860.2:p.Pro143Leu
ENST00000686757.1:c.428C>T	ENSP00000510721.1:p.Pro143Leu
ENST00000687740.1:n.562C>T
ENST00000689271.1:c.428C>T	ENSP00000510797.1:p.Pro143Leu
ENST00000690900.1:c.428C>T	ENSP00000510703.1:p.Pro143Leu
ENST00000692413.1:c.428C>T	ENSP00000509374.1:p.Pro143Leu
ENST00000692825.1:c.496C>T	ENSP00000509447.1:n.496C>T
ENST00000693308.1:c.428C>T	ENSP00000509770.1:p.Pro143Leu
ENST00000693763.1:n.562C>T
ENST00000245407.8:c.428C>T MANE Select	ENSP00000245407.3:p.Pro143Leu
ENST00000245407.7:c.428C>T	ENSP00000245407.3:p.Pro143Leu
ENST00000415928.5:c.197C>T	ENSP00000388838.1:p.Pro66Leu
ENST00000435065.6:c.500C>T	ENSP00000402760.2:p.Pro167Leu
ENST00000437841.6:c.394-6916C>T	ENSP00000400553.1:n.394-6916C>T
ENST00000461013.5:n.2185C>T
NM_001308122.1:c.500C>T	NP_001295051.1:p.Pro167Leu
NM_003060.3:c.428C>T	NP_003051.1:p.Pro143Leu
XR_427718.1:n.769C>T
XR_948290.1:n.769C>T
XR_948291.1:n.769C>T
XM_011543590.2:c.-204C>T	XP_011541892.1:n.-204C>T
XM_017009778.2:c.-31-5735C>T	XP_016865267.1:n.-31-5735C>T
XR_001742215.1:n.769C>T
XR_001742216.1:n.769C>T
XR_427718.2:n.769C>T
XR_948290.2:n.769C>T
XR_948291.2:n.769C>T
NM_003060.4:c.428C>T MANE Select	NP_003051.1:p.Pro143Leu
NM_001308122.2:c.500C>T	NP_001295051.1:p.Pro167Leu