Canonical Allele Identifier: CA360804812

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 935824
• ClinVar RCV Id: RCV001204498
• dbSNP Id: rs1752446862
• MyVariant Identifiers: chr5:g.131719937T>C (hg19) ; chr5:g.132384245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384245T>C , CM000667.2:g.132384245T>C	GRCh38
NC_000005.9:g.131719937T>C , CM000667.1:g.131719937T>C	GRCh37
NC_000005.8:g.131747836T>C	NCBI36
NG_008982.1:g.19537T>C
NG_008982.2:g.19542T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.596T>C	ENSP00000388838.2:p.Leu199Pro
ENST00000435065.7:c.668T>C	ENSP00000402760.2:p.Leu223Pro
ENST00000448810.6:c.596T>C	ENSP00000401860.2:p.Leu199Pro
ENST00000686757.1:c.596T>C	ENSP00000510721.1:p.Leu199Pro
ENST00000687740.1:n.730T>C
ENST00000688151.1:n.1775T>C
ENST00000689271.1:c.596T>C	ENSP00000510797.1:p.Leu199Pro
ENST00000690900.1:c.596T>C	ENSP00000510703.1:p.Leu199Pro
ENST00000692355.1:c.148T>C
ENST00000692413.1:c.596T>C	ENSP00000509374.1:p.Leu199Pro
ENST00000692825.1:c.664T>C	ENSP00000509447.1:n.664T>C
ENST00000693308.1:c.596T>C	ENSP00000509770.1:p.Leu199Pro
ENST00000693763.1:n.730T>C
ENST00000245407.8:c.596T>C MANE Select	ENSP00000245407.3:p.Leu199Pro
ENST00000245407.7:c.596T>C	ENSP00000245407.3:p.Leu199Pro
ENST00000415928.5:c.365T>C	ENSP00000388838.1:p.Leu122Pro
ENST00000435065.6:c.668T>C	ENSP00000402760.2:p.Leu223Pro
ENST00000437841.6:c.394-1083T>C	ENSP00000400553.1:n.394-1083T>C
ENST00000461013.5:n.8018T>C
NM_001308122.1:c.668T>C	NP_001295051.1:p.Leu223Pro
NM_003060.3:c.596T>C	NP_003051.1:p.Leu199Pro
XM_011543590.1:c.-36T>C	XP_011541892.1:n.-36T>C
XR_427718.1:n.937T>C
XR_948290.1:n.937T>C
XR_948291.1:n.937T>C
XM_011543590.2:c.-36T>C	XP_011541892.1:n.-36T>C
XM_017009778.2:c.68T>C	XP_016865267.1:p.Leu23Pro
XR_001742215.1:n.937T>C
XR_001742216.1:n.937T>C
XR_427718.2:n.937T>C
XR_948290.2:n.937T>C
XR_948291.2:n.937T>C
NM_003060.4:c.596T>C MANE Select	NP_003051.1:p.Leu199Pro
NM_001308122.2:c.668T>C	NP_001295051.1:p.Leu223Pro