Canonical Allele Identifier: CA360807561

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390755-T-C
• MyVariant Identifiers: chr5:g.131726447T>C (hg19) ; chr5:g.132390755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390755T>C , CM000667.2:g.132390755T>C	GRCh38
NC_000005.9:g.131726447T>C , CM000667.1:g.131726447T>C	GRCh37
NC_000005.8:g.131754346T>C	NCBI36
NG_008982.1:g.26047T>C
NG_008982.2:g.26052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.959T>C	ENSP00000388838.2:p.Phe320Ser
ENST00000435065.7:c.1190T>C	ENSP00000402760.2:p.Phe397Ser
ENST00000448810.6:c.1053-21T>C	ENSP00000401860.2:n.1053-21T>C
ENST00000685543.1:n.1259T>C
ENST00000686757.1:c.*282T>C	ENSP00000510721.1:n.*282T>C
ENST00000687740.1:n.3803T>C
ENST00000688151.1:n.2428T>C
ENST00000689271.1:c.965T>C	ENSP00000510797.1:p.Phe322Ser
ENST00000690900.1:c.*282T>C	ENSP00000510703.1:n.*282T>C
ENST00000692212.1:n.2730T>C
ENST00000692355.1:c.371T>C
ENST00000692413.1:c.1100T>C	ENSP00000509374.1:p.Phe367Ser
ENST00000692825.1:c.1186T>C	ENSP00000509447.1:n.1186T>C
ENST00000693308.1:c.1166T>C	ENSP00000509770.1:p.Phe389Ser
ENST00000693763.1:n.2278T>C
ENST00000245407.8:c.1118T>C MANE Select	ENSP00000245407.3:p.Phe373Ser
ENST00000245407.7:c.1118T>C	ENSP00000245407.3:p.Phe373Ser
ENST00000435065.6:c.1190T>C	ENSP00000402760.2:p.Phe397Ser
ENST00000447841.5:c.112-1678T>C
ENST00000448810.5:c.401-21T>C
ENST00000461013.5:n.8540T>C
ENST00000475308.1:n.1796T>C
ENST00000479605.5:n.221T>C
NM_001308122.1:c.1190T>C	NP_001295051.1:p.Phe397Ser
NM_003060.3:c.1118T>C	NP_003051.1:p.Phe373Ser
XM_011543590.1:c.500T>C	XP_011541892.1:p.Phe167Ser
XR_427718.1:n.1478T>C
XR_948290.1:n.1394-1678T>C
XR_948291.1:n.1472T>C
XM_011543590.2:c.500T>C	XP_011541892.1:p.Phe167Ser
XM_017009778.2:c.590T>C	XP_016865267.1:p.Phe197Ser
XR_001742215.1:n.1394-21T>C
XR_001742216.1:n.1413-21T>C
XR_427718.2:n.1478T>C
XR_948290.2:n.1394-1678T>C
XR_948291.2:n.1472T>C
NM_003060.4:c.1118T>C MANE Select	NP_003051.1:p.Phe373Ser
NM_001308122.2:c.1190T>C	NP_001295051.1:p.Phe397Ser