Canonical Allele Identifier: CA360809618

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729382T>G (hg19) ; chr5:g.132393690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393690T>G , CM000667.2:g.132393690T>G	GRCh38
NC_000005.9:g.131729382T>G , CM000667.1:g.131729382T>G	GRCh37
NC_000005.8:g.131757281T>G	NCBI36
NG_008982.1:g.28982T>G
NG_008982.2:g.28987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-495T>G	ENSP00000388838.2:n.1292-495T>G
ENST00000435065.7:c.1537T>G	ENSP00000402760.2:p.Phe513Val
ENST00000448810.6:c.*317T>G	ENSP00000401860.2:n.*317T>G
ENST00000685543.1:n.1606T>G
ENST00000686757.1:c.*629T>G	ENSP00000510721.1:n.*629T>G
ENST00000686868.1:n.457T>G
ENST00000687740.1:n.4150T>G
ENST00000688151.1:n.2775T>G
ENST00000689271.1:c.1312T>G	ENSP00000510797.1:p.Phe438Val
ENST00000690900.1:c.*629T>G	ENSP00000510703.1:n.*629T>G
ENST00000692212.1:n.4605T>G
ENST00000692355.1:c.718T>G
ENST00000692413.1:c.1447T>G	ENSP00000509374.1:p.Phe483Val
ENST00000692825.1:c.1533T>G	ENSP00000509447.1:n.1533T>G
ENST00000693308.1:c.1513T>G	ENSP00000509770.1:p.Phe505Val
ENST00000693763.1:n.2625T>G
ENST00000245407.8:c.1465T>G MANE Select	ENSP00000245407.3:p.Phe489Val
ENST00000245407.7:c.1465T>G	ENSP00000245407.3:p.Phe489Val
ENST00000435065.6:c.1537T>G	ENSP00000402760.2:p.Phe513Val
ENST00000447841.5:c.309T>G
ENST00000448810.5:c.727T>G
ENST00000461013.5:n.8887T>G
ENST00000475308.1:n.2143T>G
NM_001308122.1:c.1537T>G	NP_001295051.1:p.Phe513Val
NM_003060.3:c.1465T>G	NP_003051.1:p.Phe489Val
XM_011543590.1:c.847T>G	XP_011541892.1:p.Phe283Val
XR_948290.1:n.1591T>G
XM_011543590.2:c.847T>G	XP_011541892.1:p.Phe283Val
XM_017009778.2:c.937T>G	XP_016865267.1:p.Phe313Val
XR_001742215.1:n.1720T>G
XR_001742216.1:n.1739T>G
XR_427718.2:n.1825T>G
XR_948290.2:n.1591T>G
XR_948291.2:n.1819T>G
NM_003060.4:c.1465T>G MANE Select	NP_003051.1:p.Phe489Val
NM_001308122.2:c.1537T>G	NP_001295051.1:p.Phe513Val