Canonical Allele Identifier: CA360808663

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728190A>C (hg19) ; chr5:g.132392498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392498A>C , CM000667.2:g.132392498A>C	GRCh38
NC_000005.9:g.131728190A>C , CM000667.1:g.131728190A>C	GRCh37
NC_000005.8:g.131756089A>C	NCBI36
NG_008982.1:g.27790A>C
NG_008982.2:g.27795A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1174A>C	ENSP00000388838.2:p.Met392Leu
ENST00000435065.7:c.1405A>C	ENSP00000402760.2:p.Met469Leu
ENST00000448810.6:c.*185A>C	ENSP00000401860.2:n.*185A>C
ENST00000685543.1:n.1474A>C
ENST00000686757.1:c.*497A>C	ENSP00000510721.1:n.*497A>C
ENST00000687740.1:n.4018A>C
ENST00000688151.1:n.2643A>C
ENST00000689271.1:c.1180A>C	ENSP00000510797.1:p.Met394Leu
ENST00000690900.1:c.*497A>C	ENSP00000510703.1:n.*497A>C
ENST00000692212.1:n.4473A>C
ENST00000692355.1:c.586A>C
ENST00000692413.1:c.1315A>C	ENSP00000509374.1:p.Met439Leu
ENST00000692825.1:c.1401A>C	ENSP00000509447.1:n.1401A>C
ENST00000693308.1:c.1381A>C	ENSP00000509770.1:p.Met461Leu
ENST00000693763.1:n.2493A>C
ENST00000245407.8:c.1333A>C MANE Select	ENSP00000245407.3:p.Met445Leu
ENST00000245407.7:c.1333A>C	ENSP00000245407.3:p.Met445Leu
ENST00000435065.6:c.1405A>C	ENSP00000402760.2:p.Met469Leu
ENST00000447841.5:c.177A>C
ENST00000448810.5:c.595A>C
ENST00000461013.5:n.8755A>C
ENST00000475308.1:n.2011A>C
ENST00000479605.5:n.436A>C
NM_001308122.1:c.1405A>C	NP_001295051.1:p.Met469Leu
NM_003060.3:c.1333A>C	NP_003051.1:p.Met445Leu
XM_011543590.1:c.715A>C	XP_011541892.1:p.Met239Leu
XR_948290.1:n.1459A>C
XM_011543590.2:c.715A>C	XP_011541892.1:p.Met239Leu
XM_017009778.2:c.805A>C	XP_016865267.1:p.Met269Leu
XR_001742215.1:n.1588A>C
XR_001742216.1:n.1607A>C
XR_427718.2:n.1693A>C
XR_948290.2:n.1459A>C
XR_948291.2:n.1687A>C
NM_003060.4:c.1333A>C MANE Select	NP_003051.1:p.Met445Leu
NM_001308122.2:c.1405A>C	NP_001295051.1:p.Met469Leu