Canonical Allele Identifier: CA360805545

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722741G>A (hg19) ; chr5:g.132387049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387049G>A , CM000667.2:g.132387049G>A	GRCh38
NC_000005.9:g.131722741G>A , CM000667.1:g.131722741G>A	GRCh37
NC_000005.8:g.131750640G>A	NCBI36
NG_008982.1:g.22341G>A
NG_008982.2:g.22346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.690G>A	ENSP00000388838.2:p.Trp230Ter
ENST00000435065.7:c.921G>A	ENSP00000402760.2:p.Trp307Ter
ENST00000448810.6:c.849G>A	ENSP00000401860.2:p.Trp283Ter
ENST00000686757.1:c.*13G>A	ENSP00000510721.1:n.*13G>A
ENST00000687740.1:n.3534G>A
ENST00000688151.1:n.2159G>A
ENST00000689271.1:c.696G>A	ENSP00000510797.1:p.Trp232Ter
ENST00000690900.1:c.*13G>A	ENSP00000510703.1:n.*13G>A
ENST00000692212.1:n.793G>A
ENST00000692355.1:c.205-1872G>A
ENST00000692413.1:c.844-13G>A	ENSP00000509374.1:n.844-13G>A
ENST00000692825.1:c.917G>A	ENSP00000509447.1:n.917G>A
ENST00000693308.1:c.897G>A	ENSP00000509770.1:p.Trp299Ter
ENST00000693763.1:n.2009G>A
ENST00000245407.8:c.849G>A MANE Select	ENSP00000245407.3:p.Trp283Ter
ENST00000245407.7:c.849G>A	ENSP00000245407.3:p.Trp283Ter
ENST00000415928.5:c.618G>A	ENSP00000388838.1:p.Trp206Ter
ENST00000435065.6:c.921G>A	ENSP00000402760.2:p.Trp307Ter
ENST00000437841.6:c.*164G>A	ENSP00000400553.1:n.*164G>A
ENST00000448810.5:c.197G>A
ENST00000461013.5:n.8271G>A
NM_001308122.1:c.921G>A	NP_001295051.1:p.Trp307Ter
NM_003060.3:c.849G>A	NP_003051.1:p.Trp283Ter
XM_011543590.1:c.231G>A	XP_011541892.1:p.Trp77Ter
XR_427718.1:n.1209G>A
XR_948290.1:n.1190G>A
XR_948291.1:n.1203G>A
XM_011543590.2:c.231G>A	XP_011541892.1:p.Trp77Ter
XM_017009778.2:c.321G>A	XP_016865267.1:p.Trp107Ter
XR_001742215.1:n.1190G>A
XR_001742216.1:n.1209G>A
XR_427718.2:n.1209G>A
XR_948290.2:n.1190G>A
XR_948291.2:n.1203G>A
NM_003060.4:c.849G>A MANE Select	NP_003051.1:p.Trp283Ter
NM_001308122.2:c.921G>A	NP_001295051.1:p.Trp307Ter