Canonical Allele Identifier: CA360809549

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729368G>C (hg19) ; chr5:g.132393676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393676G>C , CM000667.2:g.132393676G>C	GRCh38
NC_000005.9:g.131729368G>C , CM000667.1:g.131729368G>C	GRCh37
NC_000005.8:g.131757267G>C	NCBI36
NG_008982.1:g.28968G>C
NG_008982.2:g.28973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-509G>C	ENSP00000388838.2:n.1292-509G>C
ENST00000435065.7:c.1523G>C	ENSP00000402760.2:p.Gly508Ala
ENST00000448810.6:c.*303G>C	ENSP00000401860.2:n.*303G>C
ENST00000685543.1:n.1592G>C
ENST00000686757.1:c.*615G>C	ENSP00000510721.1:n.*615G>C
ENST00000686868.1:n.443G>C
ENST00000687740.1:n.4136G>C
ENST00000688151.1:n.2761G>C
ENST00000689271.1:c.1298G>C	ENSP00000510797.1:p.Gly433Ala
ENST00000690900.1:c.*615G>C	ENSP00000510703.1:n.*615G>C
ENST00000692212.1:n.4591G>C
ENST00000692355.1:c.704G>C
ENST00000692413.1:c.1433G>C	ENSP00000509374.1:p.Gly478Ala
ENST00000692825.1:c.1519G>C	ENSP00000509447.1:n.1519G>C
ENST00000693308.1:c.1499G>C	ENSP00000509770.1:p.Gly500Ala
ENST00000693763.1:n.2611G>C
ENST00000245407.8:c.1451G>C MANE Select	ENSP00000245407.3:p.Gly484Ala
ENST00000245407.7:c.1451G>C	ENSP00000245407.3:p.Gly484Ala
ENST00000435065.6:c.1523G>C	ENSP00000402760.2:p.Gly508Ala
ENST00000447841.5:c.295G>C
ENST00000448810.5:c.713G>C
ENST00000461013.5:n.8873G>C
ENST00000475308.1:n.2129G>C
ENST00000479605.5:n.554G>C
NM_001308122.1:c.1523G>C	NP_001295051.1:p.Gly508Ala
NM_003060.3:c.1451G>C	NP_003051.1:p.Gly484Ala
XM_011543590.1:c.833G>C	XP_011541892.1:p.Gly278Ala
XR_948290.1:n.1577G>C
XM_011543590.2:c.833G>C	XP_011541892.1:p.Gly278Ala
XM_017009778.2:c.923G>C	XP_016865267.1:p.Gly308Ala
XR_001742215.1:n.1706G>C
XR_001742216.1:n.1725G>C
XR_427718.2:n.1811G>C
XR_948290.2:n.1577G>C
XR_948291.2:n.1805G>C
NM_003060.4:c.1451G>C MANE Select	NP_003051.1:p.Gly484Ala
NM_001308122.2:c.1523G>C	NP_001295051.1:p.Gly508Ala