Canonical Allele Identifier: CA360809766

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393721-C-G
• MyVariant Identifiers: chr5:g.131729413C>G (hg19) ; chr5:g.132393721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393721C>G , CM000667.2:g.132393721C>G	GRCh38
NC_000005.9:g.131729413C>G , CM000667.1:g.131729413C>G	GRCh37
NC_000005.8:g.131757312C>G	NCBI36
NG_008982.1:g.29013C>G
NG_008982.2:g.29018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-464C>G	ENSP00000388838.2:n.1292-464C>G
ENST00000435065.7:c.1568C>G	ENSP00000402760.2:p.Thr523Ser
ENST00000448810.6:c.*348C>G	ENSP00000401860.2:n.*348C>G
ENST00000685543.1:n.1637C>G
ENST00000686757.1:c.*660C>G	ENSP00000510721.1:n.*660C>G
ENST00000686868.1:n.488C>G
ENST00000687740.1:n.4181C>G
ENST00000688151.1:n.2806C>G
ENST00000689271.1:c.1343C>G	ENSP00000510797.1:p.Thr448Ser
ENST00000690900.1:c.*660C>G	ENSP00000510703.1:n.*660C>G
ENST00000692212.1:n.4636C>G
ENST00000692355.1:c.749C>G
ENST00000692413.1:c.1478C>G	ENSP00000509374.1:p.Thr493Ser
ENST00000692825.1:c.1564C>G	ENSP00000509447.1:n.1564C>G
ENST00000693308.1:c.1544C>G	ENSP00000509770.1:p.Thr515Ser
ENST00000693763.1:n.2656C>G
ENST00000245407.8:c.1496C>G MANE Select	ENSP00000245407.3:p.Thr499Ser
ENST00000245407.7:c.1496C>G	ENSP00000245407.3:p.Thr499Ser
ENST00000435065.6:c.1568C>G	ENSP00000402760.2:p.Thr523Ser
ENST00000447841.5:c.340C>G
ENST00000448810.5:c.758C>G
ENST00000461013.5:n.8918C>G
ENST00000475308.1:n.2174C>G
NM_001308122.1:c.1568C>G	NP_001295051.1:p.Thr523Ser
NM_003060.3:c.1496C>G	NP_003051.1:p.Thr499Ser
XM_011543590.1:c.878C>G	XP_011541892.1:p.Thr293Ser
XR_948290.1:n.1622C>G
XM_011543590.2:c.878C>G	XP_011541892.1:p.Thr293Ser
XM_017009778.2:c.968C>G	XP_016865267.1:p.Thr323Ser
XR_001742215.1:n.1751C>G
XR_001742216.1:n.1770C>G
XR_427718.2:n.1856C>G
XR_948290.2:n.1622C>G
XR_948291.2:n.1850C>G
NM_003060.4:c.1496C>G MANE Select	NP_003051.1:p.Thr499Ser
NM_001308122.2:c.1568C>G	NP_001295051.1:p.Thr523Ser