Canonical Allele Identifier: CA3404091

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460391
• ClinVar RCV Id: RCV000552913 ; RCV001509256 ; RCV001274337
• dbSNP Id: rs149730454
• ExAC: 5:131726471 T / C
• gnomAD v2: 5-131726471-T-C
• gnomAD v3: 5-132390779-T-C
• gnomAD v4: 5-132390779-T-C
• MyVariant Identifiers: chr5:g.131726471T>C (hg19) ; chr5:g.132390779T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390779T>C , CM000667.2:g.132390779T>C	GRCh38
NC_000005.9:g.131726471T>C , CM000667.1:g.131726471T>C	GRCh37
NC_000005.8:g.131754370T>C	NCBI36
NG_008982.1:g.26071T>C
NG_008982.2:g.26076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.983T>C	ENSP00000388838.2:p.Met328Thr
ENST00000435065.7:c.1214T>C	ENSP00000402760.2:p.Met405Thr
ENST00000448810.6:c.1056T>C	ENSP00000401860.2:p.Asp352=
ENST00000685543.1:n.1283T>C
ENST00000686757.1:c.*306T>C	ENSP00000510721.1:n.*306T>C
ENST00000687740.1:n.3827T>C
ENST00000688151.1:n.2452T>C
ENST00000689271.1:c.989T>C	ENSP00000510797.1:p.Met330Thr
ENST00000690900.1:c.*306T>C	ENSP00000510703.1:n.*306T>C
ENST00000692212.1:n.2754T>C
ENST00000692355.1:c.395T>C
ENST00000692413.1:c.1124T>C	ENSP00000509374.1:p.Met375Thr
ENST00000692825.1:c.1210T>C	ENSP00000509447.1:n.1210T>C
ENST00000693308.1:c.1190T>C	ENSP00000509770.1:p.Met397Thr
ENST00000693763.1:n.2302T>C
ENST00000245407.8:c.1142T>C MANE Select	ENSP00000245407.3:p.Met381Thr
ENST00000245407.7:c.1142T>C	ENSP00000245407.3:p.Met381Thr
ENST00000435065.6:c.1214T>C	ENSP00000402760.2:p.Met405Thr
ENST00000447841.5:c.112-1654T>C
ENST00000448810.5:c.404T>C
ENST00000461013.5:n.8564T>C
ENST00000475308.1:n.1820T>C
ENST00000479605.5:n.245T>C
NM_001308122.1:c.1214T>C	NP_001295051.1:p.Met405Thr
NM_003060.3:c.1142T>C	NP_003051.1:p.Met381Thr
XM_011543590.1:c.524T>C	XP_011541892.1:p.Met175Thr
XR_427718.1:n.1502T>C
XR_948290.1:n.1394-1654T>C
XR_948291.1:n.1496T>C
XM_011543590.2:c.524T>C	XP_011541892.1:p.Met175Thr
XM_017009778.2:c.614T>C	XP_016865267.1:p.Met205Thr
XR_001742215.1:n.1397T>C
XR_001742216.1:n.1416T>C
XR_427718.2:n.1502T>C
XR_948290.2:n.1394-1654T>C
XR_948291.2:n.1496T>C
NM_003060.4:c.1142T>C MANE Select	NP_003051.1:p.Met381Thr
NM_001308122.2:c.1214T>C	NP_001295051.1:p.Met405Thr