Canonical Allele Identifier: CA360809628

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729383T>G (hg19) ; chr5:g.132393691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393691T>G , CM000667.2:g.132393691T>G	GRCh38
NC_000005.9:g.131729383T>G , CM000667.1:g.131729383T>G	GRCh37
NC_000005.8:g.131757282T>G	NCBI36
NG_008982.1:g.28983T>G
NG_008982.2:g.28988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-494T>G	ENSP00000388838.2:n.1292-494T>G
ENST00000435065.7:c.1538T>G	ENSP00000402760.2:p.Phe513Cys
ENST00000448810.6:c.*318T>G	ENSP00000401860.2:n.*318T>G
ENST00000685543.1:n.1607T>G
ENST00000686757.1:c.*630T>G	ENSP00000510721.1:n.*630T>G
ENST00000686868.1:n.458T>G
ENST00000687740.1:n.4151T>G
ENST00000688151.1:n.2776T>G
ENST00000689271.1:c.1313T>G	ENSP00000510797.1:p.Phe438Cys
ENST00000690900.1:c.*630T>G	ENSP00000510703.1:n.*630T>G
ENST00000692212.1:n.4606T>G
ENST00000692355.1:c.719T>G
ENST00000692413.1:c.1448T>G	ENSP00000509374.1:p.Phe483Cys
ENST00000692825.1:c.1534T>G	ENSP00000509447.1:n.1534T>G
ENST00000693308.1:c.1514T>G	ENSP00000509770.1:p.Phe505Cys
ENST00000693763.1:n.2626T>G
ENST00000245407.8:c.1466T>G MANE Select	ENSP00000245407.3:p.Phe489Cys
ENST00000245407.7:c.1466T>G	ENSP00000245407.3:p.Phe489Cys
ENST00000435065.6:c.1538T>G	ENSP00000402760.2:p.Phe513Cys
ENST00000447841.5:c.310T>G
ENST00000448810.5:c.728T>G
ENST00000461013.5:n.8888T>G
ENST00000475308.1:n.2144T>G
NM_001308122.1:c.1538T>G	NP_001295051.1:p.Phe513Cys
NM_003060.3:c.1466T>G	NP_003051.1:p.Phe489Cys
XM_011543590.1:c.848T>G	XP_011541892.1:p.Phe283Cys
XR_948290.1:n.1592T>G
XM_011543590.2:c.848T>G	XP_011541892.1:p.Phe283Cys
XM_017009778.2:c.938T>G	XP_016865267.1:p.Phe313Cys
XR_001742215.1:n.1721T>G
XR_001742216.1:n.1740T>G
XR_427718.2:n.1826T>G
XR_948290.2:n.1592T>G
XR_948291.2:n.1820T>G
NM_003060.4:c.1466T>G MANE Select	NP_003051.1:p.Phe489Cys
NM_001308122.2:c.1538T>G	NP_001295051.1:p.Phe513Cys