Canonical Allele Identifier: CA360807490

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726413T>A (hg19) ; chr5:g.132390721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390721T>A , CM000667.2:g.132390721T>A	GRCh38
NC_000005.9:g.131726413T>A , CM000667.1:g.131726413T>A	GRCh37
NC_000005.8:g.131754312T>A	NCBI36
NG_008982.1:g.26013T>A
NG_008982.2:g.26018T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.925T>A	ENSP00000388838.2:p.Ser309Thr
ENST00000435065.7:c.1156T>A	ENSP00000402760.2:p.Ser386Thr
ENST00000448810.6:c.1053-55T>A	ENSP00000401860.2:n.1053-55T>A
ENST00000685543.1:n.1225T>A
ENST00000686757.1:c.*248T>A	ENSP00000510721.1:n.*248T>A
ENST00000687740.1:n.3769T>A
ENST00000688151.1:n.2394T>A
ENST00000689271.1:c.931T>A	ENSP00000510797.1:p.Ser311Thr
ENST00000690900.1:c.*248T>A	ENSP00000510703.1:n.*248T>A
ENST00000692212.1:n.2696T>A
ENST00000692355.1:c.337T>A
ENST00000692413.1:c.1066T>A	ENSP00000509374.1:p.Ser356Thr
ENST00000692825.1:c.1152T>A	ENSP00000509447.1:n.1152T>A
ENST00000693308.1:c.1132T>A	ENSP00000509770.1:p.Ser378Thr
ENST00000693763.1:n.2244T>A
ENST00000245407.8:c.1084T>A MANE Select	ENSP00000245407.3:p.Ser362Thr
ENST00000245407.7:c.1084T>A	ENSP00000245407.3:p.Ser362Thr
ENST00000435065.6:c.1156T>A	ENSP00000402760.2:p.Ser386Thr
ENST00000447841.5:c.111+1700T>A
ENST00000448810.5:c.401-55T>A
ENST00000461013.5:n.8506T>A
ENST00000475308.1:n.1762T>A
ENST00000479605.5:n.187T>A
NM_001308122.1:c.1156T>A	NP_001295051.1:p.Ser386Thr
NM_003060.3:c.1084T>A	NP_003051.1:p.Ser362Thr
XM_011543590.1:c.466T>A	XP_011541892.1:p.Ser156Thr
XR_427718.1:n.1444T>A
XR_948290.1:n.1393+1700T>A
XR_948291.1:n.1438T>A
XM_011543590.2:c.466T>A	XP_011541892.1:p.Ser156Thr
XM_017009778.2:c.556T>A	XP_016865267.1:p.Ser186Thr
XR_001742215.1:n.1394-55T>A
XR_001742216.1:n.1413-55T>A
XR_427718.2:n.1444T>A
XR_948290.2:n.1393+1700T>A
XR_948291.2:n.1438T>A
NM_003060.4:c.1084T>A MANE Select	NP_003051.1:p.Ser362Thr
NM_001308122.2:c.1156T>A	NP_001295051.1:p.Ser386Thr