Canonical Allele Identifier: CA360807598

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726464T>C (hg19) ; chr5:g.132390772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390772T>C , CM000667.2:g.132390772T>C	GRCh38
NC_000005.9:g.131726464T>C , CM000667.1:g.131726464T>C	GRCh37
NC_000005.8:g.131754363T>C	NCBI36
NG_008982.1:g.26064T>C
NG_008982.2:g.26069T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.976T>C	ENSP00000388838.2:p.Ser326Pro
ENST00000435065.7:c.1207T>C	ENSP00000402760.2:p.Ser403Pro
ENST00000448810.6:c.1053-4T>C	ENSP00000401860.2:n.1053-4T>C
ENST00000685543.1:n.1276T>C
ENST00000686757.1:c.*299T>C	ENSP00000510721.1:n.*299T>C
ENST00000687740.1:n.3820T>C
ENST00000688151.1:n.2445T>C
ENST00000689271.1:c.982T>C	ENSP00000510797.1:p.Ser328Pro
ENST00000690900.1:c.*299T>C	ENSP00000510703.1:n.*299T>C
ENST00000692212.1:n.2747T>C
ENST00000692355.1:c.388T>C
ENST00000692413.1:c.1117T>C	ENSP00000509374.1:p.Ser373Pro
ENST00000692825.1:c.1203T>C	ENSP00000509447.1:n.1203T>C
ENST00000693308.1:c.1183T>C	ENSP00000509770.1:p.Ser395Pro
ENST00000693763.1:n.2295T>C
ENST00000245407.8:c.1135T>C MANE Select	ENSP00000245407.3:p.Ser379Pro
ENST00000245407.7:c.1135T>C	ENSP00000245407.3:p.Ser379Pro
ENST00000435065.6:c.1207T>C	ENSP00000402760.2:p.Ser403Pro
ENST00000447841.5:c.112-1661T>C
ENST00000448810.5:c.401-4T>C
ENST00000461013.5:n.8557T>C
ENST00000475308.1:n.1813T>C
ENST00000479605.5:n.238T>C
NM_001308122.1:c.1207T>C	NP_001295051.1:p.Ser403Pro
NM_003060.3:c.1135T>C	NP_003051.1:p.Ser379Pro
XM_011543590.1:c.517T>C	XP_011541892.1:p.Ser173Pro
XR_427718.1:n.1495T>C
XR_948290.1:n.1394-1661T>C
XR_948291.1:n.1489T>C
XM_011543590.2:c.517T>C	XP_011541892.1:p.Ser173Pro
XM_017009778.2:c.607T>C	XP_016865267.1:p.Ser203Pro
XR_001742215.1:n.1394-4T>C
XR_001742216.1:n.1413-4T>C
XR_427718.2:n.1495T>C
XR_948290.2:n.1394-1661T>C
XR_948291.2:n.1489T>C
NM_003060.4:c.1135T>C MANE Select	NP_003051.1:p.Ser379Pro
NM_001308122.2:c.1207T>C	NP_001295051.1:p.Ser403Pro