Canonical Allele Identifier: CA360808635

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728185T>G (hg19) ; chr5:g.132392493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392493T>G , CM000667.2:g.132392493T>G	GRCh38
NC_000005.9:g.131728185T>G , CM000667.1:g.131728185T>G	GRCh37
NC_000005.8:g.131756084T>G	NCBI36
NG_008982.1:g.27785T>G
NG_008982.2:g.27790T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1169T>G	ENSP00000388838.2:p.Phe390Cys
ENST00000435065.7:c.1400T>G	ENSP00000402760.2:p.Phe467Cys
ENST00000448810.6:c.*180T>G	ENSP00000401860.2:n.*180T>G
ENST00000685543.1:n.1469T>G
ENST00000686757.1:c.*492T>G	ENSP00000510721.1:n.*492T>G
ENST00000687740.1:n.4013T>G
ENST00000688151.1:n.2638T>G
ENST00000689271.1:c.1175T>G	ENSP00000510797.1:p.Phe392Cys
ENST00000690900.1:c.*492T>G	ENSP00000510703.1:n.*492T>G
ENST00000692212.1:n.4468T>G
ENST00000692355.1:c.581T>G
ENST00000692413.1:c.1310T>G	ENSP00000509374.1:p.Phe437Cys
ENST00000692825.1:c.1396T>G	ENSP00000509447.1:n.1396T>G
ENST00000693308.1:c.1376T>G	ENSP00000509770.1:p.Phe459Cys
ENST00000693763.1:n.2488T>G
ENST00000245407.8:c.1328T>G MANE Select	ENSP00000245407.3:p.Phe443Cys
ENST00000245407.7:c.1328T>G	ENSP00000245407.3:p.Phe443Cys
ENST00000435065.6:c.1400T>G	ENSP00000402760.2:p.Phe467Cys
ENST00000447841.5:c.172T>G
ENST00000448810.5:c.590T>G
ENST00000461013.5:n.8750T>G
ENST00000475308.1:n.2006T>G
ENST00000479605.5:n.431T>G
NM_001308122.1:c.1400T>G	NP_001295051.1:p.Phe467Cys
NM_003060.3:c.1328T>G	NP_003051.1:p.Phe443Cys
XM_011543590.1:c.710T>G	XP_011541892.1:p.Phe237Cys
XR_948290.1:n.1454T>G
XM_011543590.2:c.710T>G	XP_011541892.1:p.Phe237Cys
XM_017009778.2:c.800T>G	XP_016865267.1:p.Phe267Cys
XR_001742215.1:n.1583T>G
XR_001742216.1:n.1602T>G
XR_427718.2:n.1688T>G
XR_948290.2:n.1454T>G
XR_948291.2:n.1682T>G
NM_003060.4:c.1328T>G MANE Select	NP_003051.1:p.Phe443Cys
NM_001308122.2:c.1400T>G	NP_001295051.1:p.Phe467Cys