Canonical Allele Identifier: CA360809819

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729429C>G (hg19) ; chr5:g.132393737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393737C>G , CM000667.2:g.132393737C>G	GRCh38
NC_000005.9:g.131729429C>G , CM000667.1:g.131729429C>G	GRCh37
NC_000005.8:g.131757328C>G	NCBI36
NG_008982.1:g.29029C>G
NG_008982.2:g.29034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-448C>G	ENSP00000388838.2:n.1292-448C>G
ENST00000435065.7:c.1584C>G	ENSP00000402760.2:p.Ile528Met
ENST00000448810.6:c.*364C>G	ENSP00000401860.2:n.*364C>G
ENST00000685543.1:n.1653C>G
ENST00000686757.1:c.*676C>G	ENSP00000510721.1:n.*676C>G
ENST00000686868.1:n.504C>G
ENST00000687740.1:n.4197C>G
ENST00000688151.1:n.2822C>G
ENST00000689271.1:c.1359C>G	ENSP00000510797.1:p.Ile453Met
ENST00000690900.1:c.*676C>G	ENSP00000510703.1:n.*676C>G
ENST00000692212.1:n.4652C>G
ENST00000692355.1:c.765C>G
ENST00000692413.1:c.1494C>G	ENSP00000509374.1:p.Ile498Met
ENST00000692825.1:c.1580C>G	ENSP00000509447.1:n.1580C>G
ENST00000693308.1:c.1560C>G	ENSP00000509770.1:p.Ile520Met
ENST00000693763.1:n.2672C>G
ENST00000245407.8:c.1512C>G MANE Select	ENSP00000245407.3:p.Ile504Met
ENST00000245407.7:c.1512C>G	ENSP00000245407.3:p.Ile504Met
ENST00000435065.6:c.1584C>G	ENSP00000402760.2:p.Ile528Met
ENST00000447841.5:c.356C>G
ENST00000448810.5:c.774C>G
ENST00000461013.5:n.8934C>G
ENST00000475308.1:n.2190C>G
NM_001308122.1:c.1584C>G	NP_001295051.1:p.Ile528Met
NM_003060.3:c.1512C>G	NP_003051.1:p.Ile504Met
XM_011543590.1:c.894C>G	XP_011541892.1:p.Ile298Met
XR_948290.1:n.1638C>G
XM_011543590.2:c.894C>G	XP_011541892.1:p.Ile298Met
XM_017009778.2:c.984C>G	XP_016865267.1:p.Ile328Met
XR_001742215.1:n.1767C>G
XR_001742216.1:n.1786C>G
XR_427718.2:n.1872C>G
XR_948290.2:n.1638C>G
XR_948291.2:n.1866C>G
NM_003060.4:c.1512C>G MANE Select	NP_003051.1:p.Ile504Met
NM_001308122.2:c.1584C>G	NP_001295051.1:p.Ile528Met