Canonical Allele Identifier: CA360809947

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729467T>C (hg19) ; chr5:g.132393775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393775T>C , CM000667.2:g.132393775T>C	GRCh38
NC_000005.9:g.131729467T>C , CM000667.1:g.131729467T>C	GRCh37
NC_000005.8:g.131757366T>C	NCBI36
NG_008982.1:g.29067T>C
NG_008982.2:g.29072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-410T>C	ENSP00000388838.2:n.1292-410T>C
ENST00000435065.7:c.1622T>C	ENSP00000402760.2:p.Leu541Pro
ENST00000448810.6:c.*402T>C	ENSP00000401860.2:n.*402T>C
ENST00000685543.1:n.1691T>C
ENST00000686757.1:c.*714T>C	ENSP00000510721.1:n.*714T>C
ENST00000686868.1:n.542T>C
ENST00000687740.1:n.4235T>C
ENST00000688151.1:n.2860T>C
ENST00000689271.1:c.1397T>C	ENSP00000510797.1:p.Leu466Pro
ENST00000690900.1:c.*714T>C	ENSP00000510703.1:n.*714T>C
ENST00000692212.1:n.4690T>C
ENST00000692355.1:c.803T>C
ENST00000692413.1:c.1532T>C	ENSP00000509374.1:p.Leu511Pro
ENST00000692825.1:c.1618T>C	ENSP00000509447.1:n.1618T>C
ENST00000693308.1:c.1598T>C	ENSP00000509770.1:p.Leu533Pro
ENST00000693763.1:n.2710T>C
ENST00000245407.8:c.1550T>C MANE Select	ENSP00000245407.3:p.Leu517Pro
ENST00000245407.7:c.1550T>C	ENSP00000245407.3:p.Leu517Pro
ENST00000435065.6:c.1622T>C	ENSP00000402760.2:p.Leu541Pro
ENST00000447841.5:c.394T>C
ENST00000448810.5:c.812T>C
ENST00000461013.5:n.8972T>C
ENST00000475308.1:n.2228T>C
NM_001308122.1:c.1622T>C	NP_001295051.1:p.Leu541Pro
NM_003060.3:c.1550T>C	NP_003051.1:p.Leu517Pro
XM_011543590.1:c.932T>C	XP_011541892.1:p.Leu311Pro
XR_948290.1:n.1676T>C
XM_011543590.2:c.932T>C	XP_011541892.1:p.Leu311Pro
XM_017009778.2:c.1022T>C	XP_016865267.1:p.Leu341Pro
XR_001742215.1:n.1805T>C
XR_001742216.1:n.1824T>C
XR_427718.2:n.1910T>C
XR_948290.2:n.1676T>C
XR_948291.2:n.1904T>C
NM_003060.4:c.1550T>C MANE Select	NP_003051.1:p.Leu517Pro
NM_001308122.2:c.1622T>C	NP_001295051.1:p.Leu541Pro