Canonical Allele Identifier: CA360807469

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726408G>A (hg19) ; chr5:g.132390716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390716G>A , CM000667.2:g.132390716G>A	GRCh38
NC_000005.9:g.131726408G>A , CM000667.1:g.131726408G>A	GRCh37
NC_000005.8:g.131754307G>A	NCBI36
NG_008982.1:g.26008G>A
NG_008982.2:g.26013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.920G>A	ENSP00000388838.2:p.Gly307Glu
ENST00000435065.7:c.1151G>A	ENSP00000402760.2:p.Gly384Glu
ENST00000448810.6:c.1053-60G>A	ENSP00000401860.2:n.1053-60G>A
ENST00000685543.1:n.1220G>A
ENST00000686757.1:c.*243G>A	ENSP00000510721.1:n.*243G>A
ENST00000687740.1:n.3764G>A
ENST00000688151.1:n.2389G>A
ENST00000689271.1:c.926G>A	ENSP00000510797.1:p.Gly309Glu
ENST00000690900.1:c.*243G>A	ENSP00000510703.1:n.*243G>A
ENST00000692212.1:n.2691G>A
ENST00000692355.1:c.332G>A
ENST00000692413.1:c.1061G>A	ENSP00000509374.1:p.Gly354Glu
ENST00000692825.1:c.1147G>A	ENSP00000509447.1:n.1147G>A
ENST00000693308.1:c.1127G>A	ENSP00000509770.1:p.Gly376Glu
ENST00000693763.1:n.2239G>A
ENST00000245407.8:c.1079G>A MANE Select	ENSP00000245407.3:p.Gly360Glu
ENST00000245407.7:c.1079G>A	ENSP00000245407.3:p.Gly360Glu
ENST00000435065.6:c.1151G>A	ENSP00000402760.2:p.Gly384Glu
ENST00000447841.5:c.111+1695G>A
ENST00000448810.5:c.401-60G>A
ENST00000461013.5:n.8501G>A
ENST00000475308.1:n.1757G>A
ENST00000479605.5:n.182G>A
NM_001308122.1:c.1151G>A	NP_001295051.1:p.Gly384Glu
NM_003060.3:c.1079G>A	NP_003051.1:p.Gly360Glu
XM_011543590.1:c.461G>A	XP_011541892.1:p.Gly154Glu
XR_427718.1:n.1439G>A
XR_948290.1:n.1393+1695G>A
XR_948291.1:n.1433G>A
XM_011543590.2:c.461G>A	XP_011541892.1:p.Gly154Glu
XM_017009778.2:c.551G>A	XP_016865267.1:p.Gly184Glu
XR_001742215.1:n.1394-60G>A
XR_001742216.1:n.1413-60G>A
XR_427718.2:n.1439G>A
XR_948290.2:n.1393+1695G>A
XR_948291.2:n.1433G>A
NM_003060.4:c.1079G>A MANE Select	NP_003051.1:p.Gly360Glu
NM_001308122.2:c.1151G>A	NP_001295051.1:p.Gly384Glu