Canonical Allele Identifier: CA360809565

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393679-C-T
• MyVariant Identifiers: chr5:g.131729371C>T (hg19) ; chr5:g.132393679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393679C>T , CM000667.2:g.132393679C>T	GRCh38
NC_000005.9:g.131729371C>T , CM000667.1:g.131729371C>T	GRCh37
NC_000005.8:g.131757270C>T	NCBI36
NG_008982.1:g.28971C>T
NG_008982.2:g.28976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-506C>T	ENSP00000388838.2:n.1292-506C>T
ENST00000435065.7:c.1526C>T	ENSP00000402760.2:p.Ala509Val
ENST00000448810.6:c.*306C>T	ENSP00000401860.2:n.*306C>T
ENST00000685543.1:n.1595C>T
ENST00000686757.1:c.*618C>T	ENSP00000510721.1:n.*618C>T
ENST00000686868.1:n.446C>T
ENST00000687740.1:n.4139C>T
ENST00000688151.1:n.2764C>T
ENST00000689271.1:c.1301C>T	ENSP00000510797.1:p.Ala434Val
ENST00000690900.1:c.*618C>T	ENSP00000510703.1:n.*618C>T
ENST00000692212.1:n.4594C>T
ENST00000692355.1:c.707C>T
ENST00000692413.1:c.1436C>T	ENSP00000509374.1:p.Ala479Val
ENST00000692825.1:c.1522C>T	ENSP00000509447.1:n.1522C>T
ENST00000693308.1:c.1502C>T	ENSP00000509770.1:p.Ala501Val
ENST00000693763.1:n.2614C>T
ENST00000245407.8:c.1454C>T MANE Select	ENSP00000245407.3:p.Ala485Val
ENST00000245407.7:c.1454C>T	ENSP00000245407.3:p.Ala485Val
ENST00000435065.6:c.1526C>T	ENSP00000402760.2:p.Ala509Val
ENST00000447841.5:c.298C>T
ENST00000448810.5:c.716C>T
ENST00000461013.5:n.8876C>T
ENST00000475308.1:n.2132C>T
ENST00000479605.5:n.557C>T
NM_001308122.1:c.1526C>T	NP_001295051.1:p.Ala509Val
NM_003060.3:c.1454C>T	NP_003051.1:p.Ala485Val
XM_011543590.1:c.836C>T	XP_011541892.1:p.Ala279Val
XR_948290.1:n.1580C>T
XM_011543590.2:c.836C>T	XP_011541892.1:p.Ala279Val
XM_017009778.2:c.926C>T	XP_016865267.1:p.Ala309Val
XR_001742215.1:n.1709C>T
XR_001742216.1:n.1728C>T
XR_427718.2:n.1814C>T
XR_948290.2:n.1580C>T
XR_948291.2:n.1808C>T
NM_003060.4:c.1454C>T MANE Select	NP_003051.1:p.Ala485Val
NM_001308122.2:c.1526C>T	NP_001295051.1:p.Ala509Val