Canonical Allele Identifier: CA127208797

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1951950
• ClinVar RCV Id: RCV002676616
• dbSNP Id: rs2405518
• MyVariant Identifiers: chr5:g.131719906T>C (hg19) ; chr5:g.132384214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384214T>C , CM000667.2:g.132384214T>C	GRCh38
NC_000005.9:g.131719906T>C , CM000667.1:g.131719906T>C	GRCh37
NC_000005.8:g.131747805T>C	NCBI36
NG_008982.1:g.19506T>C
NG_008982.2:g.19511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.565T>C	ENSP00000388838.2:p.Phe189Leu
ENST00000435065.7:c.637T>C	ENSP00000402760.2:p.Phe213Leu
ENST00000448810.6:c.565T>C	ENSP00000401860.2:p.Phe189Leu
ENST00000686757.1:c.565T>C	ENSP00000510721.1:p.Phe189Leu
ENST00000687740.1:n.699T>C
ENST00000688151.1:n.1744T>C
ENST00000689271.1:c.565T>C	ENSP00000510797.1:p.Phe189Leu
ENST00000690900.1:c.565T>C	ENSP00000510703.1:p.Phe189Leu
ENST00000692355.1:c.117T>C
ENST00000692413.1:c.565T>C	ENSP00000509374.1:p.Phe189Leu
ENST00000692825.1:c.633T>C	ENSP00000509447.1:n.633T>C
ENST00000693308.1:c.565T>C	ENSP00000509770.1:p.Phe189Leu
ENST00000693763.1:n.699T>C
ENST00000245407.8:c.565T>C MANE Select	ENSP00000245407.3:p.Phe189Leu
ENST00000245407.7:c.565T>C	ENSP00000245407.3:p.Phe189Leu
ENST00000415928.5:c.334T>C	ENSP00000388838.1:p.Phe112Leu
ENST00000435065.6:c.637T>C	ENSP00000402760.2:p.Phe213Leu
ENST00000437841.6:c.394-1114T>C	ENSP00000400553.1:n.394-1114T>C
ENST00000461013.5:n.7987T>C
NM_001308122.1:c.637T>C	NP_001295051.1:p.Phe213Leu
NM_003060.3:c.565T>C	NP_003051.1:p.Phe189Leu
XM_011543590.1:c.-67T>C	XP_011541892.1:n.-67T>C
XR_427718.1:n.906T>C
XR_948290.1:n.906T>C
XR_948291.1:n.906T>C
XM_011543590.2:c.-67T>C	XP_011541892.1:n.-67T>C
XM_017009778.2:c.37T>C	XP_016865267.1:p.Phe13Leu
XR_001742215.1:n.906T>C
XR_001742216.1:n.906T>C
XR_427718.2:n.906T>C
XR_948290.2:n.906T>C
XR_948291.2:n.906T>C
NM_003060.4:c.565T>C MANE Select	NP_003051.1:p.Phe189Leu
NM_001308122.2:c.637T>C	NP_001295051.1:p.Phe213Leu