Canonical Allele Identifier: CA360807541

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726438G>C (hg19) ; chr5:g.132390746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390746G>C , CM000667.2:g.132390746G>C	GRCh38
NC_000005.9:g.131726438G>C , CM000667.1:g.131726438G>C	GRCh37
NC_000005.8:g.131754337G>C	NCBI36
NG_008982.1:g.26038G>C
NG_008982.2:g.26043G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.950G>C	ENSP00000388838.2:p.Gly317Ala
ENST00000435065.7:c.1181G>C	ENSP00000402760.2:p.Gly394Ala
ENST00000448810.6:c.1053-30G>C	ENSP00000401860.2:n.1053-30G>C
ENST00000685543.1:n.1250G>C
ENST00000686757.1:c.*273G>C	ENSP00000510721.1:n.*273G>C
ENST00000687740.1:n.3794G>C
ENST00000688151.1:n.2419G>C
ENST00000689271.1:c.956G>C	ENSP00000510797.1:p.Gly319Ala
ENST00000690900.1:c.*273G>C	ENSP00000510703.1:n.*273G>C
ENST00000692212.1:n.2721G>C
ENST00000692355.1:c.362G>C
ENST00000692413.1:c.1091G>C	ENSP00000509374.1:p.Gly364Ala
ENST00000692825.1:c.1177G>C	ENSP00000509447.1:n.1177G>C
ENST00000693308.1:c.1157G>C	ENSP00000509770.1:p.Gly386Ala
ENST00000693763.1:n.2269G>C
ENST00000245407.8:c.1109G>C MANE Select	ENSP00000245407.3:p.Gly370Ala
ENST00000245407.7:c.1109G>C	ENSP00000245407.3:p.Gly370Ala
ENST00000435065.6:c.1181G>C	ENSP00000402760.2:p.Gly394Ala
ENST00000447841.5:c.112-1687G>C
ENST00000448810.5:c.401-30G>C
ENST00000461013.5:n.8531G>C
ENST00000475308.1:n.1787G>C
ENST00000479605.5:n.212G>C
NM_001308122.1:c.1181G>C	NP_001295051.1:p.Gly394Ala
NM_003060.3:c.1109G>C	NP_003051.1:p.Gly370Ala
XM_011543590.1:c.491G>C	XP_011541892.1:p.Gly164Ala
XR_427718.1:n.1469G>C
XR_948290.1:n.1394-1687G>C
XR_948291.1:n.1463G>C
XM_011543590.2:c.491G>C	XP_011541892.1:p.Gly164Ala
XM_017009778.2:c.581G>C	XP_016865267.1:p.Gly194Ala
XR_001742215.1:n.1394-30G>C
XR_001742216.1:n.1413-30G>C
XR_427718.2:n.1469G>C
XR_948290.2:n.1394-1687G>C
XR_948291.2:n.1463G>C
NM_003060.4:c.1109G>C MANE Select	NP_003051.1:p.Gly370Ala
NM_001308122.2:c.1181G>C	NP_001295051.1:p.Gly394Ala