Canonical Allele Identifier: CA360805500

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722718T>C (hg19) ; chr5:g.132387026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387026T>C , CM000667.2:g.132387026T>C	GRCh38
NC_000005.9:g.131722718T>C , CM000667.1:g.131722718T>C	GRCh37
NC_000005.8:g.131750617T>C	NCBI36
NG_008982.1:g.22318T>C
NG_008982.2:g.22323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.667T>C	ENSP00000388838.2:p.Phe223Leu
ENST00000435065.7:c.898T>C	ENSP00000402760.2:p.Phe300Leu
ENST00000448810.6:c.826T>C	ENSP00000401860.2:p.Phe276Leu
ENST00000686757.1:c.845T>C	ENSP00000510721.1:p.Val282Ala
ENST00000687740.1:n.3511T>C
ENST00000688151.1:n.2136T>C
ENST00000689271.1:c.673T>C	ENSP00000510797.1:p.Phe225Leu
ENST00000690900.1:c.797T>C	ENSP00000510703.1:p.Val266Ala
ENST00000692212.1:n.770T>C
ENST00000692355.1:c.205-1895T>C
ENST00000692413.1:c.844-36T>C	ENSP00000509374.1:n.844-36T>C
ENST00000692825.1:c.894T>C	ENSP00000509447.1:n.894T>C
ENST00000693308.1:c.874T>C	ENSP00000509770.1:p.Phe292Leu
ENST00000693763.1:n.1986T>C
ENST00000245407.8:c.826T>C MANE Select	ENSP00000245407.3:p.Phe276Leu
ENST00000245407.7:c.826T>C	ENSP00000245407.3:p.Phe276Leu
ENST00000415928.5:c.595T>C	ENSP00000388838.1:p.Phe199Leu
ENST00000435065.6:c.898T>C	ENSP00000402760.2:p.Phe300Leu
ENST00000437841.6:c.*141T>C	ENSP00000400553.1:n.*141T>C
ENST00000448810.5:c.174T>C
ENST00000461013.5:n.8248T>C
NM_001308122.1:c.898T>C	NP_001295051.1:p.Phe300Leu
NM_003060.3:c.826T>C	NP_003051.1:p.Phe276Leu
XM_011543590.1:c.208T>C	XP_011541892.1:p.Phe70Leu
XR_427718.1:n.1186T>C
XR_948290.1:n.1167T>C
XR_948291.1:n.1180T>C
XM_011543590.2:c.208T>C	XP_011541892.1:p.Phe70Leu
XM_017009778.2:c.298T>C	XP_016865267.1:p.Phe100Leu
XR_001742215.1:n.1167T>C
XR_001742216.1:n.1186T>C
XR_427718.2:n.1186T>C
XR_948290.2:n.1167T>C
XR_948291.2:n.1180T>C
NM_003060.4:c.826T>C MANE Select	NP_003051.1:p.Phe276Leu
NM_001308122.2:c.898T>C	NP_001295051.1:p.Phe300Leu