Canonical Allele Identifier: CA3404193

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2151107
• ClinVar RCV Id: RCV003067906 ; RCV003067907
• dbSNP Id: rs200479243
• ExAC: 5:131729466 C / T
• gnomAD v2: 5-131729466-C-T
• gnomAD v3: 5-132393774-C-T
• gnomAD v4: 5-132393774-C-T
• MyVariant Identifiers: chr5:g.131729466C>T (hg19) ; chr5:g.132393774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393774C>T , CM000667.2:g.132393774C>T	GRCh38
NC_000005.9:g.131729466C>T , CM000667.1:g.131729466C>T	GRCh37
NC_000005.8:g.131757365C>T	NCBI36
NG_008982.1:g.29066C>T
NG_008982.2:g.29071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-411C>T	ENSP00000388838.2:n.1292-411C>T
ENST00000435065.7:c.1621C>T	ENSP00000402760.2:p.Leu541Phe
ENST00000448810.6:c.*401C>T	ENSP00000401860.2:n.*401C>T
ENST00000685543.1:n.1690C>T
ENST00000686757.1:c.*713C>T	ENSP00000510721.1:n.*713C>T
ENST00000686868.1:n.541C>T
ENST00000687740.1:n.4234C>T
ENST00000688151.1:n.2859C>T
ENST00000689271.1:c.1396C>T	ENSP00000510797.1:p.Leu466Phe
ENST00000690900.1:c.*713C>T	ENSP00000510703.1:n.*713C>T
ENST00000692212.1:n.4689C>T
ENST00000692355.1:c.802C>T
ENST00000692413.1:c.1531C>T	ENSP00000509374.1:p.Leu511Phe
ENST00000692825.1:c.1617C>T	ENSP00000509447.1:n.1617C>T
ENST00000693308.1:c.1597C>T	ENSP00000509770.1:p.Leu533Phe
ENST00000693763.1:n.2709C>T
ENST00000245407.8:c.1549C>T MANE Select	ENSP00000245407.3:p.Leu517Phe
ENST00000245407.7:c.1549C>T	ENSP00000245407.3:p.Leu517Phe
ENST00000435065.6:c.1621C>T	ENSP00000402760.2:p.Leu541Phe
ENST00000447841.5:c.393C>T
ENST00000448810.5:c.811C>T
ENST00000461013.5:n.8971C>T
ENST00000475308.1:n.2227C>T
NM_001308122.1:c.1621C>T	NP_001295051.1:p.Leu541Phe
NM_003060.3:c.1549C>T	NP_003051.1:p.Leu517Phe
XM_011543590.1:c.931C>T	XP_011541892.1:p.Leu311Phe
XR_948290.1:n.1675C>T
XM_011543590.2:c.931C>T	XP_011541892.1:p.Leu311Phe
XM_017009778.2:c.1021C>T	XP_016865267.1:p.Leu341Phe
XR_001742215.1:n.1804C>T
XR_001742216.1:n.1823C>T
XR_427718.2:n.1909C>T
XR_948290.2:n.1675C>T
XR_948291.2:n.1903C>T
NM_003060.4:c.1549C>T MANE Select	NP_003051.1:p.Leu517Phe
NM_001308122.2:c.1621C>T	NP_001295051.1:p.Leu541Phe