Canonical Allele Identifier: CA360809909

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729456C>A (hg19) ; chr5:g.132393764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393764C>A , CM000667.2:g.132393764C>A	GRCh38
NC_000005.9:g.131729456C>A , CM000667.1:g.131729456C>A	GRCh37
NC_000005.8:g.131757355C>A	NCBI36
NG_008982.1:g.29056C>A
NG_008982.2:g.29061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-421C>A	ENSP00000388838.2:n.1292-421C>A
ENST00000435065.7:c.1611C>A	ENSP00000402760.2:p.Phe537Leu
ENST00000448810.6:c.*391C>A	ENSP00000401860.2:n.*391C>A
ENST00000685543.1:n.1680C>A
ENST00000686757.1:c.*703C>A	ENSP00000510721.1:n.*703C>A
ENST00000686868.1:n.531C>A
ENST00000687740.1:n.4224C>A
ENST00000688151.1:n.2849C>A
ENST00000689271.1:c.1386C>A	ENSP00000510797.1:p.Phe462Leu
ENST00000690900.1:c.*703C>A	ENSP00000510703.1:n.*703C>A
ENST00000692212.1:n.4679C>A
ENST00000692355.1:c.792C>A
ENST00000692413.1:c.1521C>A	ENSP00000509374.1:p.Phe507Leu
ENST00000692825.1:c.1607C>A	ENSP00000509447.1:n.1607C>A
ENST00000693308.1:c.1587C>A	ENSP00000509770.1:p.Phe529Leu
ENST00000693763.1:n.2699C>A
ENST00000245407.8:c.1539C>A MANE Select	ENSP00000245407.3:p.Phe513Leu
ENST00000245407.7:c.1539C>A	ENSP00000245407.3:p.Phe513Leu
ENST00000435065.6:c.1611C>A	ENSP00000402760.2:p.Phe537Leu
ENST00000447841.5:c.383C>A
ENST00000448810.5:c.801C>A
ENST00000461013.5:n.8961C>A
ENST00000475308.1:n.2217C>A
NM_001308122.1:c.1611C>A	NP_001295051.1:p.Phe537Leu
NM_003060.3:c.1539C>A	NP_003051.1:p.Phe513Leu
XM_011543590.1:c.921C>A	XP_011541892.1:p.Phe307Leu
XR_948290.1:n.1665C>A
XM_011543590.2:c.921C>A	XP_011541892.1:p.Phe307Leu
XM_017009778.2:c.1011C>A	XP_016865267.1:p.Phe337Leu
XR_001742215.1:n.1794C>A
XR_001742216.1:n.1813C>A
XR_427718.2:n.1899C>A
XR_948290.2:n.1665C>A
XR_948291.2:n.1893C>A
NM_003060.4:c.1539C>A MANE Select	NP_003051.1:p.Phe513Leu
NM_001308122.2:c.1611C>A	NP_001295051.1:p.Phe537Leu