Canonical Allele Identifier: CA446346232

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729436T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393744T>C , CM000667.2:g.132393744T>C	GRCh38
NC_000005.9:g.131729436T>C , CM000667.1:g.131729436T>C	GRCh37
NC_000005.8:g.131757335T>C	NCBI36
NG_008982.1:g.29036T>C
NG_008982.2:g.29041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-441T>C	ENSP00000388838.2:n.1292-441T>C
ENST00000435065.7:c.1591T>C	ENSP00000402760.2:p.Leu531=
ENST00000448810.6:c.*371T>C	ENSP00000401860.2:n.*371T>C
ENST00000685543.1:n.1660T>C
ENST00000686757.1:c.*683T>C	ENSP00000510721.1:n.*683T>C
ENST00000686868.1:n.511T>C
ENST00000687740.1:n.4204T>C
ENST00000688151.1:n.2829T>C
ENST00000689271.1:c.1366T>C	ENSP00000510797.1:p.Leu456=
ENST00000690900.1:c.*683T>C	ENSP00000510703.1:n.*683T>C
ENST00000692212.1:n.4659T>C
ENST00000692355.1:c.772T>C
ENST00000692413.1:c.1501T>C	ENSP00000509374.1:p.Leu501=
ENST00000692825.1:c.1587T>C	ENSP00000509447.1:n.1587T>C
ENST00000693308.1:c.1567T>C	ENSP00000509770.1:p.Leu523=
ENST00000693763.1:n.2679T>C
ENST00000245407.8:c.1519T>C MANE Select	ENSP00000245407.3:p.Leu507=
ENST00000245407.7:c.1519T>C	ENSP00000245407.3:p.Leu507=
ENST00000435065.6:c.1591T>C	ENSP00000402760.2:p.Leu531=
ENST00000447841.5:c.363T>C
ENST00000448810.5:c.781T>C
ENST00000461013.5:n.8941T>C
ENST00000475308.1:n.2197T>C
NM_001308122.1:c.1591T>C	NP_001295051.1:p.Leu531=
NM_003060.3:c.1519T>C	NP_003051.1:p.Leu507=
XM_011543590.1:c.901T>C	XP_011541892.1:p.Leu301=
XR_948290.1:n.1645T>C
XM_011543590.2:c.901T>C	XP_011541892.1:p.Leu301=
XM_017009778.2:c.991T>C	XP_016865267.1:p.Leu331=
XR_001742215.1:n.1774T>C
XR_001742216.1:n.1793T>C
XR_427718.2:n.1879T>C
XR_948290.2:n.1645T>C
XR_948291.2:n.1873T>C
NM_003060.4:c.1519T>C MANE Select	NP_003051.1:p.Leu507=
NM_001308122.2:c.1591T>C	NP_001295051.1:p.Leu531=