Canonical Allele Identifier: CA360809710

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729396T>G (hg19) ; chr5:g.132393704T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393704T>G , CM000667.2:g.132393704T>G	GRCh38
NC_000005.9:g.131729396T>G , CM000667.1:g.131729396T>G	GRCh37
NC_000005.8:g.131757295T>G	NCBI36
NG_008982.1:g.28996T>G
NG_008982.2:g.29001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-481T>G	ENSP00000388838.2:n.1292-481T>G
ENST00000435065.7:c.1551T>G	ENSP00000402760.2:p.Ile517Met
ENST00000448810.6:c.*331T>G	ENSP00000401860.2:n.*331T>G
ENST00000685543.1:n.1620T>G
ENST00000686757.1:c.*643T>G	ENSP00000510721.1:n.*643T>G
ENST00000686868.1:n.471T>G
ENST00000687740.1:n.4164T>G
ENST00000688151.1:n.2789T>G
ENST00000689271.1:c.1326T>G	ENSP00000510797.1:p.Ile442Met
ENST00000690900.1:c.*643T>G	ENSP00000510703.1:n.*643T>G
ENST00000692212.1:n.4619T>G
ENST00000692355.1:c.732T>G
ENST00000692413.1:c.1461T>G	ENSP00000509374.1:p.Ile487Met
ENST00000692825.1:c.1547T>G	ENSP00000509447.1:n.1547T>G
ENST00000693308.1:c.1527T>G	ENSP00000509770.1:p.Ile509Met
ENST00000693763.1:n.2639T>G
ENST00000245407.8:c.1479T>G MANE Select	ENSP00000245407.3:p.Ile493Met
ENST00000245407.7:c.1479T>G	ENSP00000245407.3:p.Ile493Met
ENST00000435065.6:c.1551T>G	ENSP00000402760.2:p.Ile517Met
ENST00000447841.5:c.323T>G
ENST00000448810.5:c.741T>G
ENST00000461013.5:n.8901T>G
ENST00000475308.1:n.2157T>G
NM_001308122.1:c.1551T>G	NP_001295051.1:p.Ile517Met
NM_003060.3:c.1479T>G	NP_003051.1:p.Ile493Met
XM_011543590.1:c.861T>G	XP_011541892.1:p.Ile287Met
XR_948290.1:n.1605T>G
XM_011543590.2:c.861T>G	XP_011541892.1:p.Ile287Met
XM_017009778.2:c.951T>G	XP_016865267.1:p.Ile317Met
XR_001742215.1:n.1734T>G
XR_001742216.1:n.1753T>G
XR_427718.2:n.1839T>G
XR_948290.2:n.1605T>G
XR_948291.2:n.1833T>G
NM_003060.4:c.1479T>G MANE Select	NP_003051.1:p.Ile493Met
NM_001308122.2:c.1551T>G	NP_001295051.1:p.Ile517Met