Canonical Allele Identifier: CA360807649

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1499745
• ClinVar RCV Id: RCV002042412
• dbSNP Id: rs2126789736
• gnomAD v4: 5-132390796-T-C
• MyVariant Identifiers: chr5:g.131726488T>C (hg19) ; chr5:g.132390796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390796T>C , CM000667.2:g.132390796T>C	GRCh38
NC_000005.9:g.131726488T>C , CM000667.1:g.131726488T>C	GRCh37
NC_000005.8:g.131754387T>C	NCBI36
NG_008982.1:g.26088T>C
NG_008982.2:g.26093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1000T>C	ENSP00000388838.2:p.Tyr334His
ENST00000435065.7:c.1231T>C	ENSP00000402760.2:p.Tyr411His
ENST00000448810.6:c.*11T>C	ENSP00000401860.2:n.*11T>C
ENST00000685543.1:n.1300T>C
ENST00000686757.1:c.*323T>C	ENSP00000510721.1:n.*323T>C
ENST00000687740.1:n.3844T>C
ENST00000688151.1:n.2469T>C
ENST00000689271.1:c.1006T>C	ENSP00000510797.1:p.Tyr336His
ENST00000690900.1:c.*323T>C	ENSP00000510703.1:n.*323T>C
ENST00000692212.1:n.2771T>C
ENST00000692355.1:c.412T>C
ENST00000692413.1:c.1141T>C	ENSP00000509374.1:p.Tyr381His
ENST00000692825.1:c.1227T>C	ENSP00000509447.1:n.1227T>C
ENST00000693308.1:c.1207T>C	ENSP00000509770.1:p.Tyr403His
ENST00000693763.1:n.2319T>C
ENST00000245407.8:c.1159T>C MANE Select	ENSP00000245407.3:p.Tyr387His
ENST00000245407.7:c.1159T>C	ENSP00000245407.3:p.Tyr387His
ENST00000435065.6:c.1231T>C	ENSP00000402760.2:p.Tyr411His
ENST00000447841.5:c.112-1637T>C
ENST00000448810.5:c.421T>C
ENST00000461013.5:n.8581T>C
ENST00000475308.1:n.1837T>C
ENST00000479605.5:n.262T>C
NM_001308122.1:c.1231T>C	NP_001295051.1:p.Tyr411His
NM_003060.3:c.1159T>C	NP_003051.1:p.Tyr387His
XM_011543590.1:c.541T>C	XP_011541892.1:p.Tyr181His
XR_427718.1:n.1519T>C
XR_948290.1:n.1394-1637T>C
XR_948291.1:n.1513T>C
XM_011543590.2:c.541T>C	XP_011541892.1:p.Tyr181His
XM_017009778.2:c.631T>C	XP_016865267.1:p.Tyr211His
XR_001742215.1:n.1414T>C
XR_001742216.1:n.1433T>C
XR_427718.2:n.1519T>C
XR_948290.2:n.1394-1637T>C
XR_948291.2:n.1513T>C
NM_003060.4:c.1159T>C MANE Select	NP_003051.1:p.Tyr387His
NM_001308122.2:c.1231T>C	NP_001295051.1:p.Tyr411His