Canonical Allele Identifier: CA360809952

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 934190
• ClinVar RCV Id: RCV001202533
• dbSNP Id: rs768925240
• gnomAD v4: 5-132393777-C-T
• MyVariant Identifiers: chr5:g.131729469C>T (hg19) ; chr5:g.132393777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393777C>T , CM000667.2:g.132393777C>T	GRCh38
NC_000005.9:g.131729469C>T , CM000667.1:g.131729469C>T	GRCh37
NC_000005.8:g.131757368C>T	NCBI36
NG_008982.1:g.29069C>T
NG_008982.2:g.29074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-408C>T	ENSP00000388838.2:n.1292-408C>T
ENST00000435065.7:c.1624C>T	ENSP00000402760.2:p.Pro542Ser
ENST00000448810.6:c.*404C>T	ENSP00000401860.2:n.*404C>T
ENST00000685543.1:n.1693C>T
ENST00000686757.1:c.*716C>T	ENSP00000510721.1:n.*716C>T
ENST00000686868.1:n.544C>T
ENST00000687740.1:n.4237C>T
ENST00000688151.1:n.2862C>T
ENST00000689271.1:c.1399C>T	ENSP00000510797.1:p.Pro467Ser
ENST00000690900.1:c.*716C>T	ENSP00000510703.1:n.*716C>T
ENST00000692212.1:n.4692C>T
ENST00000692355.1:c.805C>T
ENST00000692413.1:c.1534C>T	ENSP00000509374.1:p.Pro512Ser
ENST00000692825.1:c.1620C>T	ENSP00000509447.1:n.1620C>T
ENST00000693308.1:c.1600C>T	ENSP00000509770.1:p.Pro534Ser
ENST00000693763.1:n.2712C>T
ENST00000245407.8:c.1552C>T MANE Select	ENSP00000245407.3:p.Pro518Ser
ENST00000245407.7:c.1552C>T	ENSP00000245407.3:p.Pro518Ser
ENST00000435065.6:c.1624C>T	ENSP00000402760.2:p.Pro542Ser
ENST00000447841.5:c.396C>T
ENST00000448810.5:c.814C>T
ENST00000461013.5:n.8974C>T
ENST00000475308.1:n.2230C>T
NM_001308122.1:c.1624C>T	NP_001295051.1:p.Pro542Ser
NM_003060.3:c.1552C>T	NP_003051.1:p.Pro518Ser
XM_011543590.1:c.934C>T	XP_011541892.1:p.Pro312Ser
XR_948290.1:n.1678C>T
XM_011543590.2:c.934C>T	XP_011541892.1:p.Pro312Ser
XM_017009778.2:c.1024C>T	XP_016865267.1:p.Pro342Ser
XR_001742215.1:n.1807C>T
XR_001742216.1:n.1826C>T
XR_427718.2:n.1912C>T
XR_948290.2:n.1678C>T
XR_948291.2:n.1906C>T
NM_003060.4:c.1552C>T MANE Select	NP_003051.1:p.Pro518Ser
NM_001308122.2:c.1624C>T	NP_001295051.1:p.Pro542Ser