Canonical Allele Identifier: CA360807512

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.937C>G	ENSP00000388838.2:p.Pro313Ala
ENST00000435065.7:c.1168C>G	ENSP00000402760.2:p.Pro390Ala
ENST00000448810.6:c.1053-43C>G	ENSP00000401860.2:n.1053-43C>G
ENST00000685543.1:n.1237C>G
ENST00000686757.1:c.*260C>G	ENSP00000510721.1:n.*260C>G
ENST00000687740.1:n.3781C>G
ENST00000688151.1:n.2406C>G
ENST00000689271.1:c.943C>G	ENSP00000510797.1:p.Pro315Ala
ENST00000690900.1:c.*260C>G	ENSP00000510703.1:n.*260C>G
ENST00000692212.1:n.2708C>G
ENST00000692355.1:c.349C>G
ENST00000692413.1:c.1078C>G	ENSP00000509374.1:p.Pro360Ala
ENST00000692825.1:c.1164C>G	ENSP00000509447.1:n.1164C>G
ENST00000693308.1:c.1144C>G	ENSP00000509770.1:p.Pro382Ala
ENST00000693763.1:n.2256C>G
ENST00000245407.8:c.1096C>G MANE Select	ENSP00000245407.3:p.Pro366Ala
ENST00000245407.7:c.1096C>G	ENSP00000245407.3:p.Pro366Ala
ENST00000435065.6:c.1168C>G	ENSP00000402760.2:p.Pro390Ala
ENST00000447841.5:c.112-1700C>G
ENST00000448810.5:c.401-43C>G
ENST00000461013.5:n.8518C>G
ENST00000475308.1:n.1774C>G
ENST00000479605.5:n.199C>G
NM_001308122.1:c.1168C>G	NP_001295051.1:p.Pro390Ala
NM_003060.3:c.1096C>G	NP_003051.1:p.Pro366Ala
XM_011543590.1:c.478C>G	XP_011541892.1:p.Pro160Ala
XR_427718.1:n.1456C>G
XR_948290.1:n.1394-1700C>G
XR_948291.1:n.1450C>G
XM_011543590.2:c.478C>G	XP_011541892.1:p.Pro160Ala
XM_017009778.2:c.568C>G	XP_016865267.1:p.Pro190Ala
XR_001742215.1:n.1394-43C>G
XR_001742216.1:n.1413-43C>G
XR_427718.2:n.1456C>G
XR_948290.2:n.1394-1700C>G
XR_948291.2:n.1450C>G
NM_003060.4:c.1096C>G MANE Select	NP_003051.1:p.Pro366Ala
NM_001308122.2:c.1168C>G	NP_001295051.1:p.Pro390Ala