Canonical Allele Identifier: CA360805503

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722719T>G (hg19) ; chr5:g.132387027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387027T>G , CM000667.2:g.132387027T>G	GRCh38
NC_000005.9:g.131722719T>G , CM000667.1:g.131722719T>G	GRCh37
NC_000005.8:g.131750618T>G	NCBI36
NG_008982.1:g.22319T>G
NG_008982.2:g.22324T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.668T>G	ENSP00000388838.2:p.Phe223Cys
ENST00000435065.7:c.899T>G	ENSP00000402760.2:p.Phe300Cys
ENST00000448810.6:c.827T>G	ENSP00000401860.2:p.Phe276Cys
ENST00000686757.1:c.846T>G	ENSP00000510721.1:p.Val282=
ENST00000687740.1:n.3512T>G
ENST00000688151.1:n.2137T>G
ENST00000689271.1:c.674T>G	ENSP00000510797.1:p.Phe225Cys
ENST00000690900.1:c.798T>G	ENSP00000510703.1:p.Val266=
ENST00000692212.1:n.771T>G
ENST00000692355.1:c.205-1894T>G
ENST00000692413.1:c.844-35T>G	ENSP00000509374.1:n.844-35T>G
ENST00000692825.1:c.895T>G	ENSP00000509447.1:n.895T>G
ENST00000693308.1:c.875T>G	ENSP00000509770.1:p.Phe292Cys
ENST00000693763.1:n.1987T>G
ENST00000245407.8:c.827T>G MANE Select	ENSP00000245407.3:p.Phe276Cys
ENST00000245407.7:c.827T>G	ENSP00000245407.3:p.Phe276Cys
ENST00000415928.5:c.596T>G	ENSP00000388838.1:p.Phe199Cys
ENST00000435065.6:c.899T>G	ENSP00000402760.2:p.Phe300Cys
ENST00000437841.6:c.*142T>G	ENSP00000400553.1:n.*142T>G
ENST00000448810.5:c.175T>G
ENST00000461013.5:n.8249T>G
NM_001308122.1:c.899T>G	NP_001295051.1:p.Phe300Cys
NM_003060.3:c.827T>G	NP_003051.1:p.Phe276Cys
XM_011543590.1:c.209T>G	XP_011541892.1:p.Phe70Cys
XR_427718.1:n.1187T>G
XR_948290.1:n.1168T>G
XR_948291.1:n.1181T>G
XM_011543590.2:c.209T>G	XP_011541892.1:p.Phe70Cys
XM_017009778.2:c.299T>G	XP_016865267.1:p.Phe100Cys
XR_001742215.1:n.1168T>G
XR_001742216.1:n.1187T>G
XR_427718.2:n.1187T>G
XR_948290.2:n.1168T>G
XR_948291.2:n.1181T>G
NM_003060.4:c.827T>G MANE Select	NP_003051.1:p.Phe276Cys
NM_001308122.2:c.899T>G	NP_001295051.1:p.Phe300Cys