Canonical Allele Identifier: CA360807511

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726425C>A (hg19) ; chr5:g.132390733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390733C>A , CM000667.2:g.132390733C>A	GRCh38
NC_000005.9:g.131726425C>A , CM000667.1:g.131726425C>A	GRCh37
NC_000005.8:g.131754324C>A	NCBI36
NG_008982.1:g.26025C>A
NG_008982.2:g.26030C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.937C>A	ENSP00000388838.2:p.Pro313Thr
ENST00000435065.7:c.1168C>A	ENSP00000402760.2:p.Pro390Thr
ENST00000448810.6:c.1053-43C>A	ENSP00000401860.2:n.1053-43C>A
ENST00000685543.1:n.1237C>A
ENST00000686757.1:c.*260C>A	ENSP00000510721.1:n.*260C>A
ENST00000687740.1:n.3781C>A
ENST00000688151.1:n.2406C>A
ENST00000689271.1:c.943C>A	ENSP00000510797.1:p.Pro315Thr
ENST00000690900.1:c.*260C>A	ENSP00000510703.1:n.*260C>A
ENST00000692212.1:n.2708C>A
ENST00000692355.1:c.349C>A
ENST00000692413.1:c.1078C>A	ENSP00000509374.1:p.Pro360Thr
ENST00000692825.1:c.1164C>A	ENSP00000509447.1:n.1164C>A
ENST00000693308.1:c.1144C>A	ENSP00000509770.1:p.Pro382Thr
ENST00000693763.1:n.2256C>A
ENST00000245407.8:c.1096C>A MANE Select	ENSP00000245407.3:p.Pro366Thr
ENST00000245407.7:c.1096C>A	ENSP00000245407.3:p.Pro366Thr
ENST00000435065.6:c.1168C>A	ENSP00000402760.2:p.Pro390Thr
ENST00000447841.5:c.112-1700C>A
ENST00000448810.5:c.401-43C>A
ENST00000461013.5:n.8518C>A
ENST00000475308.1:n.1774C>A
ENST00000479605.5:n.199C>A
NM_001308122.1:c.1168C>A	NP_001295051.1:p.Pro390Thr
NM_003060.3:c.1096C>A	NP_003051.1:p.Pro366Thr
XM_011543590.1:c.478C>A	XP_011541892.1:p.Pro160Thr
XR_427718.1:n.1456C>A
XR_948290.1:n.1394-1700C>A
XR_948291.1:n.1450C>A
XM_011543590.2:c.478C>A	XP_011541892.1:p.Pro160Thr
XM_017009778.2:c.568C>A	XP_016865267.1:p.Pro190Thr
XR_001742215.1:n.1394-43C>A
XR_001742216.1:n.1413-43C>A
XR_427718.2:n.1456C>A
XR_948290.2:n.1394-1700C>A
XR_948291.2:n.1450C>A
NM_003060.4:c.1096C>A MANE Select	NP_003051.1:p.Pro366Thr
NM_001308122.2:c.1168C>A	NP_001295051.1:p.Pro390Thr