Canonical Allele Identifier: CA360804484

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131719840T>C (hg19) ; chr5:g.132384148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384148T>C , CM000667.2:g.132384148T>C	GRCh38
NC_000005.9:g.131719840T>C , CM000667.1:g.131719840T>C	GRCh37
NC_000005.8:g.131747739T>C	NCBI36
NG_008982.1:g.19440T>C
NG_008982.2:g.19445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.499T>C	ENSP00000388838.2:p.Phe167Leu
ENST00000435065.7:c.571T>C	ENSP00000402760.2:p.Phe191Leu
ENST00000448810.6:c.499T>C	ENSP00000401860.2:p.Phe167Leu
ENST00000686757.1:c.499T>C	ENSP00000510721.1:p.Phe167Leu
ENST00000687740.1:n.633T>C
ENST00000688151.1:n.1678T>C
ENST00000689271.1:c.499T>C	ENSP00000510797.1:p.Phe167Leu
ENST00000690900.1:c.499T>C	ENSP00000510703.1:p.Phe167Leu
ENST00000692355.1:c.51T>C
ENST00000692413.1:c.499T>C	ENSP00000509374.1:p.Phe167Leu
ENST00000692825.1:c.567T>C	ENSP00000509447.1:n.567T>C
ENST00000693308.1:c.499T>C	ENSP00000509770.1:p.Phe167Leu
ENST00000693763.1:n.633T>C
ENST00000245407.8:c.499T>C MANE Select	ENSP00000245407.3:p.Phe167Leu
ENST00000245407.7:c.499T>C	ENSP00000245407.3:p.Phe167Leu
ENST00000415928.5:c.268T>C	ENSP00000388838.1:p.Phe90Leu
ENST00000435065.6:c.571T>C	ENSP00000402760.2:p.Phe191Leu
ENST00000437841.6:c.394-1180T>C	ENSP00000400553.1:n.394-1180T>C
ENST00000461013.5:n.7921T>C
NM_001308122.1:c.571T>C	NP_001295051.1:p.Phe191Leu
NM_003060.3:c.499T>C	NP_003051.1:p.Phe167Leu
XR_427718.1:n.840T>C
XR_948290.1:n.840T>C
XR_948291.1:n.840T>C
XM_011543590.2:c.-133T>C	XP_011541892.1:n.-133T>C
XM_017009778.2:c.-30T>C	XP_016865267.1:n.-30T>C
XR_001742215.1:n.840T>C
XR_001742216.1:n.840T>C
XR_427718.2:n.840T>C
XR_948290.2:n.840T>C
XR_948291.2:n.840T>C
NM_003060.4:c.499T>C MANE Select	NP_003051.1:p.Phe167Leu
NM_001308122.2:c.571T>C	NP_001295051.1:p.Phe191Leu