Canonical Allele Identifier: CA360807662

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390803-T-C
• MyVariant Identifiers: chr5:g.131726495T>C (hg19) ; chr5:g.132390803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390803T>C , CM000667.2:g.132390803T>C	GRCh38
NC_000005.9:g.131726495T>C , CM000667.1:g.131726495T>C	GRCh37
NC_000005.8:g.131754394T>C	NCBI36
NG_008982.1:g.26095T>C
NG_008982.2:g.26100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1007T>C	ENSP00000388838.2:p.Leu336Ser
ENST00000435065.7:c.1238T>C	ENSP00000402760.2:p.Leu413Ser
ENST00000448810.6:c.*18T>C	ENSP00000401860.2:n.*18T>C
ENST00000685543.1:n.1307T>C
ENST00000686757.1:c.*330T>C	ENSP00000510721.1:n.*330T>C
ENST00000687740.1:n.3851T>C
ENST00000688151.1:n.2476T>C
ENST00000689271.1:c.1013T>C	ENSP00000510797.1:p.Leu338Ser
ENST00000690900.1:c.*330T>C	ENSP00000510703.1:n.*330T>C
ENST00000692212.1:n.2778T>C
ENST00000692355.1:c.419T>C
ENST00000692413.1:c.1148T>C	ENSP00000509374.1:p.Leu383Ser
ENST00000692825.1:c.1234T>C	ENSP00000509447.1:n.1234T>C
ENST00000693308.1:c.1214T>C	ENSP00000509770.1:p.Leu405Ser
ENST00000693763.1:n.2326T>C
ENST00000245407.8:c.1166T>C MANE Select	ENSP00000245407.3:p.Leu389Ser
ENST00000245407.7:c.1166T>C	ENSP00000245407.3:p.Leu389Ser
ENST00000435065.6:c.1238T>C	ENSP00000402760.2:p.Leu413Ser
ENST00000447841.5:c.112-1630T>C
ENST00000448810.5:c.428T>C
ENST00000461013.5:n.8588T>C
ENST00000475308.1:n.1844T>C
ENST00000479605.5:n.269T>C
NM_001308122.1:c.1238T>C	NP_001295051.1:p.Leu413Ser
NM_003060.3:c.1166T>C	NP_003051.1:p.Leu389Ser
XM_011543590.1:c.548T>C	XP_011541892.1:p.Leu183Ser
XR_427718.1:n.1526T>C
XR_948290.1:n.1394-1630T>C
XR_948291.1:n.1520T>C
XM_011543590.2:c.548T>C	XP_011541892.1:p.Leu183Ser
XM_017009778.2:c.638T>C	XP_016865267.1:p.Leu213Ser
XR_001742215.1:n.1421T>C
XR_001742216.1:n.1440T>C
XR_427718.2:n.1526T>C
XR_948290.2:n.1394-1630T>C
XR_948291.2:n.1520T>C
NM_003060.4:c.1166T>C MANE Select	NP_003051.1:p.Leu389Ser
NM_001308122.2:c.1238T>C	NP_001295051.1:p.Leu413Ser