Canonical Allele Identifier: CA360809642

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729385C>G (hg19) ; chr5:g.132393693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393693C>G , CM000667.2:g.132393693C>G	GRCh38
NC_000005.9:g.131729385C>G , CM000667.1:g.131729385C>G	GRCh37
NC_000005.8:g.131757284C>G	NCBI36
NG_008982.1:g.28985C>G
NG_008982.2:g.28990C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-492C>G	ENSP00000388838.2:n.1292-492C>G
ENST00000435065.7:c.1540C>G	ENSP00000402760.2:p.Leu514Val
ENST00000448810.6:c.*320C>G	ENSP00000401860.2:n.*320C>G
ENST00000685543.1:n.1609C>G
ENST00000686757.1:c.*632C>G	ENSP00000510721.1:n.*632C>G
ENST00000686868.1:n.460C>G
ENST00000687740.1:n.4153C>G
ENST00000688151.1:n.2778C>G
ENST00000689271.1:c.1315C>G	ENSP00000510797.1:p.Leu439Val
ENST00000690900.1:c.*632C>G	ENSP00000510703.1:n.*632C>G
ENST00000692212.1:n.4608C>G
ENST00000692355.1:c.721C>G
ENST00000692413.1:c.1450C>G	ENSP00000509374.1:p.Leu484Val
ENST00000692825.1:c.1536C>G	ENSP00000509447.1:n.1536C>G
ENST00000693308.1:c.1516C>G	ENSP00000509770.1:p.Leu506Val
ENST00000693763.1:n.2628C>G
ENST00000245407.8:c.1468C>G MANE Select	ENSP00000245407.3:p.Leu490Val
ENST00000245407.7:c.1468C>G	ENSP00000245407.3:p.Leu490Val
ENST00000435065.6:c.1540C>G	ENSP00000402760.2:p.Leu514Val
ENST00000447841.5:c.312C>G
ENST00000448810.5:c.730C>G
ENST00000461013.5:n.8890C>G
ENST00000475308.1:n.2146C>G
NM_001308122.1:c.1540C>G	NP_001295051.1:p.Leu514Val
NM_003060.3:c.1468C>G	NP_003051.1:p.Leu490Val
XM_011543590.1:c.850C>G	XP_011541892.1:p.Leu284Val
XR_948290.1:n.1594C>G
XM_011543590.2:c.850C>G	XP_011541892.1:p.Leu284Val
XM_017009778.2:c.940C>G	XP_016865267.1:p.Leu314Val
XR_001742215.1:n.1723C>G
XR_001742216.1:n.1742C>G
XR_427718.2:n.1828C>G
XR_948290.2:n.1594C>G
XR_948291.2:n.1822C>G
NM_003060.4:c.1468C>G MANE Select	NP_003051.1:p.Leu490Val
NM_001308122.2:c.1540C>G	NP_001295051.1:p.Leu514Val