Canonical Allele Identifier: CA360808778

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728203A>C (hg19) ; chr5:g.132392511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392511A>C , CM000667.2:g.132392511A>C	GRCh38
NC_000005.9:g.131728203A>C , CM000667.1:g.131728203A>C	GRCh37
NC_000005.8:g.131756102A>C	NCBI36
NG_008982.1:g.27803A>C
NG_008982.2:g.27808A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1187A>C	ENSP00000388838.2:p.Tyr396Ser
ENST00000435065.7:c.1418A>C	ENSP00000402760.2:p.Tyr473Ser
ENST00000448810.6:c.*198A>C	ENSP00000401860.2:n.*198A>C
ENST00000685543.1:n.1487A>C
ENST00000686757.1:c.*510A>C	ENSP00000510721.1:n.*510A>C
ENST00000687740.1:n.4031A>C
ENST00000688151.1:n.2656A>C
ENST00000689271.1:c.1193A>C	ENSP00000510797.1:p.Tyr398Ser
ENST00000690900.1:c.*510A>C	ENSP00000510703.1:n.*510A>C
ENST00000692212.1:n.4486A>C
ENST00000692355.1:c.599A>C
ENST00000692413.1:c.1328A>C	ENSP00000509374.1:p.Tyr443Ser
ENST00000692825.1:c.1414A>C	ENSP00000509447.1:n.1414A>C
ENST00000693308.1:c.1394A>C	ENSP00000509770.1:p.Tyr465Ser
ENST00000693763.1:n.2506A>C
ENST00000245407.8:c.1346A>C MANE Select	ENSP00000245407.3:p.Tyr449Ser
ENST00000245407.7:c.1346A>C	ENSP00000245407.3:p.Tyr449Ser
ENST00000435065.6:c.1418A>C	ENSP00000402760.2:p.Tyr473Ser
ENST00000447841.5:c.190A>C
ENST00000448810.5:c.608A>C
ENST00000461013.5:n.8768A>C
ENST00000475308.1:n.2024A>C
ENST00000479605.5:n.449A>C
NM_001308122.1:c.1418A>C	NP_001295051.1:p.Tyr473Ser
NM_003060.3:c.1346A>C	NP_003051.1:p.Tyr449Ser
XM_011543590.1:c.728A>C	XP_011541892.1:p.Tyr243Ser
XR_948290.1:n.1472A>C
XM_011543590.2:c.728A>C	XP_011541892.1:p.Tyr243Ser
XM_017009778.2:c.818A>C	XP_016865267.1:p.Tyr273Ser
XR_001742215.1:n.1601A>C
XR_001742216.1:n.1620A>C
XR_427718.2:n.1706A>C
XR_948290.2:n.1472A>C
XR_948291.2:n.1700A>C
NM_003060.4:c.1346A>C MANE Select	NP_003051.1:p.Tyr449Ser
NM_001308122.2:c.1418A>C	NP_001295051.1:p.Tyr473Ser