Canonical Allele Identifier: CA360810010

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729484C>T (hg19) ; chr5:g.132393792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393792C>T , CM000667.2:g.132393792C>T	GRCh38
NC_000005.9:g.131729484C>T , CM000667.1:g.131729484C>T	GRCh37
NC_000005.8:g.131757383C>T	NCBI36
NG_008982.1:g.29084C>T
NG_008982.2:g.29089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-393C>T	ENSP00000388838.2:n.1292-393C>T
ENST00000435065.7:c.1639C>T	ENSP00000402760.2:p.Gln547Ter
ENST00000448810.6:c.*419C>T	ENSP00000401860.2:n.*419C>T
ENST00000685543.1:n.1708C>T
ENST00000686757.1:c.*731C>T	ENSP00000510721.1:n.*731C>T
ENST00000686868.1:n.559C>T
ENST00000687740.1:n.4252C>T
ENST00000688151.1:n.2877C>T
ENST00000689271.1:c.1414C>T	ENSP00000510797.1:p.Gln472Ter
ENST00000690900.1:c.*731C>T	ENSP00000510703.1:n.*731C>T
ENST00000692212.1:n.4707C>T
ENST00000692355.1:c.820C>T
ENST00000692413.1:c.1549C>T	ENSP00000509374.1:p.Gln517Ter
ENST00000692825.1:c.1635C>T	ENSP00000509447.1:n.1635C>T
ENST00000693308.1:c.1615C>T	ENSP00000509770.1:p.Gln539Ter
ENST00000693763.1:n.2727C>T
ENST00000245407.8:c.1567C>T MANE Select	ENSP00000245407.3:p.Gln523Ter
ENST00000245407.7:c.1567C>T	ENSP00000245407.3:p.Gln523Ter
ENST00000435065.6:c.1639C>T	ENSP00000402760.2:p.Gln547Ter
ENST00000447841.5:c.411C>T
ENST00000448810.5:c.829C>T
ENST00000461013.5:n.8989C>T
ENST00000475308.1:n.2245C>T
NM_001308122.1:c.1639C>T	NP_001295051.1:p.Gln547Ter
NM_003060.3:c.1567C>T	NP_003051.1:p.Gln523Ter
XM_011543590.1:c.949C>T	XP_011541892.1:p.Gln317Ter
XR_948290.1:n.1693C>T
XM_011543590.2:c.949C>T	XP_011541892.1:p.Gln317Ter
XM_017009778.2:c.1039C>T	XP_016865267.1:p.Gln347Ter
XR_001742215.1:n.1822C>T
XR_001742216.1:n.1841C>T
XR_427718.2:n.1927C>T
XR_948290.2:n.1693C>T
XR_948291.2:n.1921C>T
NM_003060.4:c.1567C>T MANE Select	NP_003051.1:p.Gln523Ter
NM_001308122.2:c.1639C>T	NP_001295051.1:p.Gln547Ter