Canonical Allele Identifier: CA446343251

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1649538
• ClinVar RCV Id: RCV002146440
• dbSNP Id: rs1752738264
• gnomAD v4: 5-132392522-C-T
• MyVariant Identifiers: chr5:g.131728214C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392522C>T , CM000667.2:g.132392522C>T	GRCh38
NC_000005.9:g.131728214C>T , CM000667.1:g.131728214C>T	GRCh37
NC_000005.8:g.131756113C>T	NCBI36
NG_008982.1:g.27814C>T
NG_008982.2:g.27819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1198C>T	ENSP00000388838.2:p.Leu400=
ENST00000435065.7:c.1429C>T	ENSP00000402760.2:p.Leu477=
ENST00000448810.6:c.*209C>T	ENSP00000401860.2:n.*209C>T
ENST00000685543.1:n.1498C>T
ENST00000686757.1:c.*521C>T	ENSP00000510721.1:n.*521C>T
ENST00000687740.1:n.4042C>T
ENST00000688151.1:n.2667C>T
ENST00000689271.1:c.1204C>T	ENSP00000510797.1:p.Leu402=
ENST00000690900.1:c.*521C>T	ENSP00000510703.1:n.*521C>T
ENST00000692212.1:n.4497C>T
ENST00000692355.1:c.610C>T
ENST00000692413.1:c.1339C>T	ENSP00000509374.1:p.Leu447=
ENST00000692825.1:c.1425C>T	ENSP00000509447.1:n.1425C>T
ENST00000693308.1:c.1405C>T	ENSP00000509770.1:p.Leu469=
ENST00000693763.1:n.2517C>T
ENST00000245407.8:c.1357C>T MANE Select	ENSP00000245407.3:p.Leu453=
ENST00000245407.7:c.1357C>T	ENSP00000245407.3:p.Leu453=
ENST00000435065.6:c.1429C>T	ENSP00000402760.2:p.Leu477=
ENST00000447841.5:c.201C>T
ENST00000448810.5:c.619C>T
ENST00000461013.5:n.8779C>T
ENST00000475308.1:n.2035C>T
ENST00000479605.5:n.460C>T
NM_001308122.1:c.1429C>T	NP_001295051.1:p.Leu477=
NM_003060.3:c.1357C>T	NP_003051.1:p.Leu453=
XM_011543590.1:c.739C>T	XP_011541892.1:p.Leu247=
XR_948290.1:n.1483C>T
XM_011543590.2:c.739C>T	XP_011541892.1:p.Leu247=
XM_017009778.2:c.829C>T	XP_016865267.1:p.Leu277=
XR_001742215.1:n.1612C>T
XR_001742216.1:n.1631C>T
XR_427718.2:n.1717C>T
XR_948290.2:n.1483C>T
XR_948291.2:n.1711C>T
NM_003060.4:c.1357C>T MANE Select	NP_003051.1:p.Leu453=
NM_001308122.2:c.1429C>T	NP_001295051.1:p.Leu477=