Canonical Allele Identifier: CA360809706

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729395T>G (hg19) ; chr5:g.132393703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393703T>G , CM000667.2:g.132393703T>G	GRCh38
NC_000005.9:g.131729395T>G , CM000667.1:g.131729395T>G	GRCh37
NC_000005.8:g.131757294T>G	NCBI36
NG_008982.1:g.28995T>G
NG_008982.2:g.29000T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-482T>G	ENSP00000388838.2:n.1292-482T>G
ENST00000435065.7:c.1550T>G	ENSP00000402760.2:p.Ile517Ser
ENST00000448810.6:c.*330T>G	ENSP00000401860.2:n.*330T>G
ENST00000685543.1:n.1619T>G
ENST00000686757.1:c.*642T>G	ENSP00000510721.1:n.*642T>G
ENST00000686868.1:n.470T>G
ENST00000687740.1:n.4163T>G
ENST00000688151.1:n.2788T>G
ENST00000689271.1:c.1325T>G	ENSP00000510797.1:p.Ile442Ser
ENST00000690900.1:c.*642T>G	ENSP00000510703.1:n.*642T>G
ENST00000692212.1:n.4618T>G
ENST00000692355.1:c.731T>G
ENST00000692413.1:c.1460T>G	ENSP00000509374.1:p.Ile487Ser
ENST00000692825.1:c.1546T>G	ENSP00000509447.1:n.1546T>G
ENST00000693308.1:c.1526T>G	ENSP00000509770.1:p.Ile509Ser
ENST00000693763.1:n.2638T>G
ENST00000245407.8:c.1478T>G MANE Select	ENSP00000245407.3:p.Ile493Ser
ENST00000245407.7:c.1478T>G	ENSP00000245407.3:p.Ile493Ser
ENST00000435065.6:c.1550T>G	ENSP00000402760.2:p.Ile517Ser
ENST00000447841.5:c.322T>G
ENST00000448810.5:c.740T>G
ENST00000461013.5:n.8900T>G
ENST00000475308.1:n.2156T>G
NM_001308122.1:c.1550T>G	NP_001295051.1:p.Ile517Ser
NM_003060.3:c.1478T>G	NP_003051.1:p.Ile493Ser
XM_011543590.1:c.860T>G	XP_011541892.1:p.Ile287Ser
XR_948290.1:n.1604T>G
XM_011543590.2:c.860T>G	XP_011541892.1:p.Ile287Ser
XM_017009778.2:c.950T>G	XP_016865267.1:p.Ile317Ser
XR_001742215.1:n.1733T>G
XR_001742216.1:n.1752T>G
XR_427718.2:n.1838T>G
XR_948290.2:n.1604T>G
XR_948291.2:n.1832T>G
NM_003060.4:c.1478T>G MANE Select	NP_003051.1:p.Ile493Ser
NM_001308122.2:c.1550T>G	NP_001295051.1:p.Ile517Ser