Canonical Allele Identifier: CA16040977
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 371227
ClinVar RCV Id: RCV000410584
dbSNP Id: rs1057517106
MyVariant Identifiers: chr5:g.131714069G>T (hg19) chr5:g.132378377G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378377G>T , CM000667.2:g.132378377G>T GRCh38
NC_000005.9:g.131714069G>T , CM000667.1:g.131714069G>T GRCh37
NC_000005.8:g.131741968G>T NCBI36
NG_008982.1:g.13669G>T
NG_008982.2:g.13674G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.394-1G>T ENSP00000388838.2:n.394-1G>T
ENST00000435065.7:c.466-1G>T ENSP00000402760.2:n.466-1G>T
ENST00000448810.6:c.394-1G>T ENSP00000401860.2:n.394-1G>T
ENST00000686757.1:c.394-1G>T ENSP00000510721.1:n.394-1G>T
ENST00000687740.1:n.528-1G>T
ENST00000689271.1:c.394-1G>T ENSP00000510797.1:n.394-1G>T
ENST00000690900.1:c.394-1G>T ENSP00000510703.1:n.394-1G>T
ENST00000692413.1:c.394-1G>T ENSP00000509374.1:n.394-1G>T
ENST00000692825.1:c.462-1G>T ENSP00000509447.1:n.462-1G>T
ENST00000693308.1:c.394-1G>T ENSP00000509770.1:n.394-1G>T
ENST00000693763.1:n.528-1G>T
ENST00000245407.8:c.394-1G>T MANE Select ENSP00000245407.3:n.394-1G>T
ENST00000245407.7:c.394-1G>T ENSP00000245407.3:n.394-1G>T
ENST00000415928.5:c.163-1G>T ENSP00000388838.1:n.163-1G>T
ENST00000435065.6:c.466-1G>T ENSP00000402760.2:n.466-1G>T
ENST00000437841.6:c.394-6951G>T ENSP00000400553.1:n.394-6951G>T
ENST00000461013.5:n.2151-1G>T
NM_001308122.1:c.466-1G>T NP_001295051.1:n.466-1G>T
NM_003060.3:c.394-1G>T NP_003051.1:n.394-1G>T
XR_427718.1:n.735-1G>T
XR_948290.1:n.735-1G>T
XR_948291.1:n.735-1G>T
XM_011543590.2:c.-238-1G>T XP_011541892.1:n.-238-1G>T
XM_017009778.2:c.-31-5770G>T XP_016865267.1:n.-31-5770G>T
XR_001742215.1:n.735-1G>T
XR_001742216.1:n.735-1G>T
XR_427718.2:n.735-1G>T
XR_948290.2:n.735-1G>T
XR_948291.2:n.735-1G>T
NM_003060.4:c.394-1G>T MANE Select NP_003051.1:n.394-1G>T
NM_001308122.2:c.466-1G>T NP_001295051.1:n.466-1G>T
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