Canonical Allele Identifier: CA360807838

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726581C>G (hg19) ; chr5:g.132390889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390889C>G , CM000667.2:g.132390889C>G	GRCh38
NC_000005.9:g.131726581C>G , CM000667.1:g.131726581C>G	GRCh37
NC_000005.8:g.131754480C>G	NCBI36
NG_008982.1:g.26181C>G
NG_008982.2:g.26186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1093C>G	ENSP00000388838.2:p.Gln365Glu
ENST00000435065.7:c.1324C>G	ENSP00000402760.2:p.Gln442Glu
ENST00000448810.6:c.*104C>G	ENSP00000401860.2:n.*104C>G
ENST00000685543.1:n.1393C>G
ENST00000686757.1:c.*416C>G	ENSP00000510721.1:n.*416C>G
ENST00000687740.1:n.3937C>G
ENST00000688151.1:n.2562C>G
ENST00000689271.1:c.1099C>G	ENSP00000510797.1:p.Gln367Glu
ENST00000690900.1:c.*416C>G	ENSP00000510703.1:n.*416C>G
ENST00000692212.1:n.2864C>G
ENST00000692355.1:c.505C>G
ENST00000692413.1:c.1234C>G	ENSP00000509374.1:p.Gln412Glu
ENST00000692825.1:c.1320C>G	ENSP00000509447.1:n.1320C>G
ENST00000693308.1:c.1300C>G	ENSP00000509770.1:p.Gln434Glu
ENST00000693763.1:n.2412C>G
ENST00000245407.8:c.1252C>G MANE Select	ENSP00000245407.3:p.Gln418Glu
ENST00000245407.7:c.1252C>G	ENSP00000245407.3:p.Gln418Glu
ENST00000435065.6:c.1324C>G	ENSP00000402760.2:p.Gln442Glu
ENST00000447841.5:c.112-1544C>G
ENST00000448810.5:c.514C>G
ENST00000461013.5:n.8674C>G
ENST00000475308.1:n.1930C>G
ENST00000479605.5:n.355C>G
NM_001308122.1:c.1324C>G	NP_001295051.1:p.Gln442Glu
NM_003060.3:c.1252C>G	NP_003051.1:p.Gln418Glu
XM_011543590.1:c.634C>G	XP_011541892.1:p.Gln212Glu
XR_427718.1:n.1612C>G
XR_948290.1:n.1394-1544C>G
XR_948291.1:n.1606C>G
XM_011543590.2:c.634C>G	XP_011541892.1:p.Gln212Glu
XM_017009778.2:c.724C>G	XP_016865267.1:p.Gln242Glu
XR_001742215.1:n.1507C>G
XR_001742216.1:n.1526C>G
XR_427718.2:n.1612C>G
XR_948290.2:n.1394-1544C>G
XR_948291.2:n.1606C>G
NM_003060.4:c.1252C>G MANE Select	NP_003051.1:p.Gln418Glu
NM_001308122.2:c.1324C>G	NP_001295051.1:p.Gln442Glu