Canonical Allele Identifier: CA360809992

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1419620
• ClinVar RCV Id: RCV001940699
• dbSNP Id: rs1752787157
• gnomAD v4: 5-132393787-T-C
• MyVariant Identifiers: chr5:g.131729479T>C (hg19) ; chr5:g.132393787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393787T>C , CM000667.2:g.132393787T>C	GRCh38
NC_000005.9:g.131729479T>C , CM000667.1:g.131729479T>C	GRCh37
NC_000005.8:g.131757378T>C	NCBI36
NG_008982.1:g.29079T>C
NG_008982.2:g.29084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-398T>C	ENSP00000388838.2:n.1292-398T>C
ENST00000435065.7:c.1634T>C	ENSP00000402760.2:p.Ile545Thr
ENST00000448810.6:c.*414T>C	ENSP00000401860.2:n.*414T>C
ENST00000685543.1:n.1703T>C
ENST00000686757.1:c.*726T>C	ENSP00000510721.1:n.*726T>C
ENST00000686868.1:n.554T>C
ENST00000687740.1:n.4247T>C
ENST00000688151.1:n.2872T>C
ENST00000689271.1:c.1409T>C	ENSP00000510797.1:p.Ile470Thr
ENST00000690900.1:c.*726T>C	ENSP00000510703.1:n.*726T>C
ENST00000692212.1:n.4702T>C
ENST00000692355.1:c.815T>C
ENST00000692413.1:c.1544T>C	ENSP00000509374.1:p.Ile515Thr
ENST00000692825.1:c.1630T>C	ENSP00000509447.1:n.1630T>C
ENST00000693308.1:c.1610T>C	ENSP00000509770.1:p.Ile537Thr
ENST00000693763.1:n.2722T>C
ENST00000245407.8:c.1562T>C MANE Select	ENSP00000245407.3:p.Ile521Thr
ENST00000245407.7:c.1562T>C	ENSP00000245407.3:p.Ile521Thr
ENST00000435065.6:c.1634T>C	ENSP00000402760.2:p.Ile545Thr
ENST00000447841.5:c.406T>C
ENST00000448810.5:c.824T>C
ENST00000461013.5:n.8984T>C
ENST00000475308.1:n.2240T>C
NM_001308122.1:c.1634T>C	NP_001295051.1:p.Ile545Thr
NM_003060.3:c.1562T>C	NP_003051.1:p.Ile521Thr
XM_011543590.1:c.944T>C	XP_011541892.1:p.Ile315Thr
XR_948290.1:n.1688T>C
XM_011543590.2:c.944T>C	XP_011541892.1:p.Ile315Thr
XM_017009778.2:c.1034T>C	XP_016865267.1:p.Ile345Thr
XR_001742215.1:n.1817T>C
XR_001742216.1:n.1836T>C
XR_427718.2:n.1922T>C
XR_948290.2:n.1688T>C
XR_948291.2:n.1916T>C
NM_003060.4:c.1562T>C MANE Select	NP_003051.1:p.Ile521Thr
NM_001308122.2:c.1634T>C	NP_001295051.1:p.Ile545Thr