Canonical Allele Identifier: CA446346037

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1108447
• ClinVar RCV Id: RCV001433925
• dbSNP Id: rs1476878301
• gnomAD v4: 5-132393726-C-T
• MyVariant Identifiers: chr5:g.131729418C>T (hg19) ; chr5:g.132393726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393726C>T , CM000667.2:g.132393726C>T	GRCh38
NC_000005.9:g.131729418C>T , CM000667.1:g.131729418C>T	GRCh37
NC_000005.8:g.131757317C>T	NCBI36
NG_008982.1:g.29018C>T
NG_008982.2:g.29023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-459C>T	ENSP00000388838.2:n.1292-459C>T
ENST00000435065.7:c.1573C>T	ENSP00000402760.2:p.Leu525=
ENST00000448810.6:c.*353C>T	ENSP00000401860.2:n.*353C>T
ENST00000685543.1:n.1642C>T
ENST00000686757.1:c.*665C>T	ENSP00000510721.1:n.*665C>T
ENST00000686868.1:n.493C>T
ENST00000687740.1:n.4186C>T
ENST00000688151.1:n.2811C>T
ENST00000689271.1:c.1348C>T	ENSP00000510797.1:p.Leu450=
ENST00000690900.1:c.*665C>T	ENSP00000510703.1:n.*665C>T
ENST00000692212.1:n.4641C>T
ENST00000692355.1:c.754C>T
ENST00000692413.1:c.1483C>T	ENSP00000509374.1:p.Leu495=
ENST00000692825.1:c.1569C>T	ENSP00000509447.1:n.1569C>T
ENST00000693308.1:c.1549C>T	ENSP00000509770.1:p.Leu517=
ENST00000693763.1:n.2661C>T
ENST00000245407.8:c.1501C>T MANE Select	ENSP00000245407.3:p.Leu501=
ENST00000245407.7:c.1501C>T	ENSP00000245407.3:p.Leu501=
ENST00000435065.6:c.1573C>T	ENSP00000402760.2:p.Leu525=
ENST00000447841.5:c.345C>T
ENST00000448810.5:c.763C>T
ENST00000461013.5:n.8923C>T
ENST00000475308.1:n.2179C>T
NM_001308122.1:c.1573C>T	NP_001295051.1:p.Leu525=
NM_003060.3:c.1501C>T	NP_003051.1:p.Leu501=
XM_011543590.1:c.883C>T	XP_011541892.1:p.Leu295=
XR_948290.1:n.1627C>T
XM_011543590.2:c.883C>T	XP_011541892.1:p.Leu295=
XM_017009778.2:c.973C>T	XP_016865267.1:p.Leu325=
XR_001742215.1:n.1756C>T
XR_001742216.1:n.1775C>T
XR_427718.2:n.1861C>T
XR_948290.2:n.1627C>T
XR_948291.2:n.1855C>T
NM_003060.4:c.1501C>T MANE Select	NP_003051.1:p.Leu501=
NM_001308122.2:c.1573C>T	NP_001295051.1:p.Leu525=