Canonical Allele Identifier: CA360805228

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721163C>G (hg19) ; chr5:g.132385471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385471C>G , CM000667.2:g.132385471C>G	GRCh38
NC_000005.9:g.131721163C>G , CM000667.1:g.131721163C>G	GRCh37
NC_000005.8:g.131749062C>G	NCBI36
NG_008982.1:g.20763C>G
NG_008982.2:g.20768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1157C>G	ENSP00000388838.2:n.665+1157C>G
ENST00000435065.7:c.868C>G	ENSP00000402760.2:p.Pro290Ala
ENST00000448810.6:c.796C>G	ENSP00000401860.2:p.Pro266Ala
ENST00000686757.1:c.815C>G	ENSP00000510721.1:p.Ala272Gly
ENST00000687740.1:n.1956C>G
ENST00000688151.1:n.1988C>G
ENST00000689271.1:c.671+1151C>G	ENSP00000510797.1:n.671+1151C>G
ENST00000690900.1:c.767C>G	ENSP00000510703.1:p.Ala256Gly
ENST00000692212.1:n.622C>G
ENST00000692355.1:c.204+1170C>G
ENST00000692413.1:c.815C>G	ENSP00000509374.1:p.Ala272Gly
ENST00000692825.1:c.864C>G	ENSP00000509447.1:n.864C>G
ENST00000693308.1:c.809C>G	ENSP00000509770.1:p.Ala270Gly
ENST00000693763.1:n.1956C>G
ENST00000245407.8:c.796C>G MANE Select	ENSP00000245407.3:p.Pro266Ala
ENST00000245407.7:c.796C>G	ENSP00000245407.3:p.Pro266Ala
ENST00000415928.5:c.565C>G	ENSP00000388838.1:p.Pro189Ala
ENST00000435065.6:c.868C>G	ENSP00000402760.2:p.Pro290Ala
ENST00000437841.6:c.*111C>G	ENSP00000400553.1:n.*111C>G
ENST00000448810.5:c.144C>G
ENST00000461013.5:n.8218C>G
NM_001308122.1:c.868C>G	NP_001295051.1:p.Pro290Ala
NM_003060.3:c.796C>G	NP_003051.1:p.Pro266Ala
XM_011543590.1:c.178C>G	XP_011541892.1:p.Pro60Ala
XR_427718.1:n.1156C>G
XR_948290.1:n.1137C>G
XR_948291.1:n.1150C>G
XM_011543590.2:c.178C>G	XP_011541892.1:p.Pro60Ala
XM_017009778.2:c.268C>G	XP_016865267.1:p.Pro90Ala
XR_001742215.1:n.1137C>G
XR_001742216.1:n.1156C>G
XR_427718.2:n.1156C>G
XR_948290.2:n.1137C>G
XR_948291.2:n.1150C>G
NM_003060.4:c.796C>G MANE Select	NP_003051.1:p.Pro266Ala
NM_001308122.2:c.868C>G	NP_001295051.1:p.Pro290Ala