Canonical Allele Identifier: CA360807428

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726399G>C (hg19) ; chr5:g.132390707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390707G>C , CM000667.2:g.132390707G>C	GRCh38
NC_000005.9:g.131726399G>C , CM000667.1:g.131726399G>C	GRCh37
NC_000005.8:g.131754298G>C	NCBI36
NG_008982.1:g.25999G>C
NG_008982.2:g.26004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.911G>C	ENSP00000388838.2:p.Gly304Ala
ENST00000435065.7:c.1142G>C	ENSP00000402760.2:p.Gly381Ala
ENST00000448810.6:c.1053-69G>C	ENSP00000401860.2:n.1053-69G>C
ENST00000685543.1:n.1211G>C
ENST00000686757.1:c.*234G>C	ENSP00000510721.1:n.*234G>C
ENST00000687740.1:n.3755G>C
ENST00000688151.1:n.2380G>C
ENST00000689271.1:c.917G>C	ENSP00000510797.1:p.Gly306Ala
ENST00000690900.1:c.*234G>C	ENSP00000510703.1:n.*234G>C
ENST00000692212.1:n.2682G>C
ENST00000692355.1:c.323G>C
ENST00000692413.1:c.1052G>C	ENSP00000509374.1:p.Gly351Ala
ENST00000692825.1:c.1138G>C	ENSP00000509447.1:n.1138G>C
ENST00000693308.1:c.1118G>C	ENSP00000509770.1:p.Gly373Ala
ENST00000693763.1:n.2230G>C
ENST00000245407.8:c.1070G>C MANE Select	ENSP00000245407.3:p.Gly357Ala
ENST00000245407.7:c.1070G>C	ENSP00000245407.3:p.Gly357Ala
ENST00000435065.6:c.1142G>C	ENSP00000402760.2:p.Gly381Ala
ENST00000447841.5:c.111+1686G>C
ENST00000448810.5:c.401-69G>C
ENST00000461013.5:n.8492G>C
ENST00000475308.1:n.1748G>C
ENST00000479605.5:n.173G>C
NM_001308122.1:c.1142G>C	NP_001295051.1:p.Gly381Ala
NM_003060.3:c.1070G>C	NP_003051.1:p.Gly357Ala
XM_011543590.1:c.452G>C	XP_011541892.1:p.Gly151Ala
XR_427718.1:n.1430G>C
XR_948290.1:n.1393+1686G>C
XR_948291.1:n.1424G>C
XM_011543590.2:c.452G>C	XP_011541892.1:p.Gly151Ala
XM_017009778.2:c.542G>C	XP_016865267.1:p.Gly181Ala
XR_001742215.1:n.1394-69G>C
XR_001742216.1:n.1413-69G>C
XR_427718.2:n.1430G>C
XR_948290.2:n.1393+1686G>C
XR_948291.2:n.1424G>C
NM_003060.4:c.1070G>C MANE Select	NP_003051.1:p.Gly357Ala
NM_001308122.2:c.1142G>C	NP_001295051.1:p.Gly381Ala