Canonical Allele Identifier: CA360807562

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726447T>G (hg19) ; chr5:g.132390755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390755T>G , CM000667.2:g.132390755T>G	GRCh38
NC_000005.9:g.131726447T>G , CM000667.1:g.131726447T>G	GRCh37
NC_000005.8:g.131754346T>G	NCBI36
NG_008982.1:g.26047T>G
NG_008982.2:g.26052T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.959T>G	ENSP00000388838.2:p.Phe320Cys
ENST00000435065.7:c.1190T>G	ENSP00000402760.2:p.Phe397Cys
ENST00000448810.6:c.1053-21T>G	ENSP00000401860.2:n.1053-21T>G
ENST00000685543.1:n.1259T>G
ENST00000686757.1:c.*282T>G	ENSP00000510721.1:n.*282T>G
ENST00000687740.1:n.3803T>G
ENST00000688151.1:n.2428T>G
ENST00000689271.1:c.965T>G	ENSP00000510797.1:p.Phe322Cys
ENST00000690900.1:c.*282T>G	ENSP00000510703.1:n.*282T>G
ENST00000692212.1:n.2730T>G
ENST00000692355.1:c.371T>G
ENST00000692413.1:c.1100T>G	ENSP00000509374.1:p.Phe367Cys
ENST00000692825.1:c.1186T>G	ENSP00000509447.1:n.1186T>G
ENST00000693308.1:c.1166T>G	ENSP00000509770.1:p.Phe389Cys
ENST00000693763.1:n.2278T>G
ENST00000245407.8:c.1118T>G MANE Select	ENSP00000245407.3:p.Phe373Cys
ENST00000245407.7:c.1118T>G	ENSP00000245407.3:p.Phe373Cys
ENST00000435065.6:c.1190T>G	ENSP00000402760.2:p.Phe397Cys
ENST00000447841.5:c.112-1678T>G
ENST00000448810.5:c.401-21T>G
ENST00000461013.5:n.8540T>G
ENST00000475308.1:n.1796T>G
ENST00000479605.5:n.221T>G
NM_001308122.1:c.1190T>G	NP_001295051.1:p.Phe397Cys
NM_003060.3:c.1118T>G	NP_003051.1:p.Phe373Cys
XM_011543590.1:c.500T>G	XP_011541892.1:p.Phe167Cys
XR_427718.1:n.1478T>G
XR_948290.1:n.1394-1678T>G
XR_948291.1:n.1472T>G
XM_011543590.2:c.500T>G	XP_011541892.1:p.Phe167Cys
XM_017009778.2:c.590T>G	XP_016865267.1:p.Phe197Cys
XR_001742215.1:n.1394-21T>G
XR_001742216.1:n.1413-21T>G
XR_427718.2:n.1478T>G
XR_948290.2:n.1394-1678T>G
XR_948291.2:n.1472T>G
NM_003060.4:c.1118T>G MANE Select	NP_003051.1:p.Phe373Cys
NM_001308122.2:c.1190T>G	NP_001295051.1:p.Phe397Cys