Canonical Allele Identifier: CA446343174

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1096743
• ClinVar RCV Id: RCV001418094
• dbSNP Id: rs1752737905
• gnomAD v4: 5-132392515-A-G
• MyVariant Identifiers: chr5:g.131728207A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392515A>G , CM000667.2:g.132392515A>G	GRCh38
NC_000005.9:g.131728207A>G , CM000667.1:g.131728207A>G	GRCh37
NC_000005.8:g.131756106A>G	NCBI36
NG_008982.1:g.27807A>G
NG_008982.2:g.27812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1191A>G	ENSP00000388838.2:p.Thr397=
ENST00000435065.7:c.1422A>G	ENSP00000402760.2:p.Thr474=
ENST00000448810.6:c.*202A>G	ENSP00000401860.2:n.*202A>G
ENST00000685543.1:n.1491A>G
ENST00000686757.1:c.*514A>G	ENSP00000510721.1:n.*514A>G
ENST00000687740.1:n.4035A>G
ENST00000688151.1:n.2660A>G
ENST00000689271.1:c.1197A>G	ENSP00000510797.1:p.Thr399=
ENST00000690900.1:c.*514A>G	ENSP00000510703.1:n.*514A>G
ENST00000692212.1:n.4490A>G
ENST00000692355.1:c.603A>G
ENST00000692413.1:c.1332A>G	ENSP00000509374.1:p.Thr444=
ENST00000692825.1:c.1418A>G	ENSP00000509447.1:n.1418A>G
ENST00000693308.1:c.1398A>G	ENSP00000509770.1:p.Thr466=
ENST00000693763.1:n.2510A>G
ENST00000245407.8:c.1350A>G MANE Select	ENSP00000245407.3:p.Thr450=
ENST00000245407.7:c.1350A>G	ENSP00000245407.3:p.Thr450=
ENST00000435065.6:c.1422A>G	ENSP00000402760.2:p.Thr474=
ENST00000447841.5:c.194A>G
ENST00000448810.5:c.612A>G
ENST00000461013.5:n.8772A>G
ENST00000475308.1:n.2028A>G
ENST00000479605.5:n.453A>G
NM_001308122.1:c.1422A>G	NP_001295051.1:p.Thr474=
NM_003060.3:c.1350A>G	NP_003051.1:p.Thr450=
XM_011543590.1:c.732A>G	XP_011541892.1:p.Thr244=
XR_948290.1:n.1476A>G
XM_011543590.2:c.732A>G	XP_011541892.1:p.Thr244=
XM_017009778.2:c.822A>G	XP_016865267.1:p.Thr274=
XR_001742215.1:n.1605A>G
XR_001742216.1:n.1624A>G
XR_427718.2:n.1710A>G
XR_948290.2:n.1476A>G
XR_948291.2:n.1704A>G
NM_003060.4:c.1350A>G MANE Select	NP_003051.1:p.Thr450=
NM_001308122.2:c.1422A>G	NP_001295051.1:p.Thr474=