Canonical Allele Identifier: CA360809822

Gene: SLC22A5

Linked Data

• dbSNP Id: rs756375506
• gnomAD v2: 5-131729430-C-T
• gnomAD v4: 5-132393738-C-T
• MyVariant Identifiers: chr5:g.131729430C>T (hg19) ; chr5:g.132393738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393738C>T , CM000667.2:g.132393738C>T	GRCh38
NC_000005.9:g.131729430C>T , CM000667.1:g.131729430C>T	GRCh37
NC_000005.8:g.131757329C>T	NCBI36
NG_008982.1:g.29030C>T
NG_008982.2:g.29035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-447C>T	ENSP00000388838.2:n.1292-447C>T
ENST00000435065.7:c.1585C>T	ENSP00000402760.2:p.Leu529Phe
ENST00000448810.6:c.*365C>T	ENSP00000401860.2:n.*365C>T
ENST00000685543.1:n.1654C>T
ENST00000686757.1:c.*677C>T	ENSP00000510721.1:n.*677C>T
ENST00000686868.1:n.505C>T
ENST00000687740.1:n.4198C>T
ENST00000688151.1:n.2823C>T
ENST00000689271.1:c.1360C>T	ENSP00000510797.1:p.Leu454Phe
ENST00000690900.1:c.*677C>T	ENSP00000510703.1:n.*677C>T
ENST00000692212.1:n.4653C>T
ENST00000692355.1:c.766C>T
ENST00000692413.1:c.1495C>T	ENSP00000509374.1:p.Leu499Phe
ENST00000692825.1:c.1581C>T	ENSP00000509447.1:n.1581C>T
ENST00000693308.1:c.1561C>T	ENSP00000509770.1:p.Leu521Phe
ENST00000693763.1:n.2673C>T
ENST00000245407.8:c.1513C>T MANE Select	ENSP00000245407.3:p.Leu505Phe
ENST00000245407.7:c.1513C>T	ENSP00000245407.3:p.Leu505Phe
ENST00000435065.6:c.1585C>T	ENSP00000402760.2:p.Leu529Phe
ENST00000447841.5:c.357C>T
ENST00000448810.5:c.775C>T
ENST00000461013.5:n.8935C>T
ENST00000475308.1:n.2191C>T
NM_001308122.1:c.1585C>T	NP_001295051.1:p.Leu529Phe
NM_003060.3:c.1513C>T	NP_003051.1:p.Leu505Phe
XM_011543590.1:c.895C>T	XP_011541892.1:p.Leu299Phe
XR_948290.1:n.1639C>T
XM_011543590.2:c.895C>T	XP_011541892.1:p.Leu299Phe
XM_017009778.2:c.985C>T	XP_016865267.1:p.Leu329Phe
XR_001742215.1:n.1768C>T
XR_001742216.1:n.1787C>T
XR_427718.2:n.1873C>T
XR_948290.2:n.1639C>T
XR_948291.2:n.1867C>T
NM_003060.4:c.1513C>T MANE Select	NP_003051.1:p.Leu505Phe
NM_001308122.2:c.1585C>T	NP_001295051.1:p.Leu529Phe