Canonical Allele Identifier: CA360805564

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132387057-C-T
• MyVariant Identifiers: chr5:g.131722749C>T (hg19) ; chr5:g.132387057C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387057C>T , CM000667.2:g.132387057C>T	GRCh38
NC_000005.9:g.131722749C>T , CM000667.1:g.131722749C>T	GRCh37
NC_000005.8:g.131750648C>T	NCBI36
NG_008982.1:g.22349C>T
NG_008982.2:g.22354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.698C>T	ENSP00000388838.2:p.Ser233Phe
ENST00000435065.7:c.929C>T	ENSP00000402760.2:p.Ser310Phe
ENST00000448810.6:c.857C>T	ENSP00000401860.2:p.Ser286Phe
ENST00000686757.1:c.*21C>T	ENSP00000510721.1:n.*21C>T
ENST00000687740.1:n.3542C>T
ENST00000688151.1:n.2167C>T
ENST00000689271.1:c.704C>T	ENSP00000510797.1:p.Ser235Phe
ENST00000690900.1:c.*21C>T	ENSP00000510703.1:n.*21C>T
ENST00000692212.1:n.801C>T
ENST00000692355.1:c.205-1864C>T
ENST00000692413.1:c.844-5C>T	ENSP00000509374.1:n.844-5C>T
ENST00000692825.1:c.925C>T	ENSP00000509447.1:n.925C>T
ENST00000693308.1:c.905C>T	ENSP00000509770.1:p.Ser302Phe
ENST00000693763.1:n.2017C>T
ENST00000245407.8:c.857C>T MANE Select	ENSP00000245407.3:p.Ser286Phe
ENST00000245407.7:c.857C>T	ENSP00000245407.3:p.Ser286Phe
ENST00000415928.5:c.626C>T	ENSP00000388838.1:p.Ser209Phe
ENST00000435065.6:c.929C>T	ENSP00000402760.2:p.Ser310Phe
ENST00000437841.6:c.*172C>T	ENSP00000400553.1:n.*172C>T
ENST00000448810.5:c.205C>T
ENST00000461013.5:n.8279C>T
NM_001308122.1:c.929C>T	NP_001295051.1:p.Ser310Phe
NM_003060.3:c.857C>T	NP_003051.1:p.Ser286Phe
XM_011543590.1:c.239C>T	XP_011541892.1:p.Ser80Phe
XR_427718.1:n.1217C>T
XR_948290.1:n.1198C>T
XR_948291.1:n.1211C>T
XM_011543590.2:c.239C>T	XP_011541892.1:p.Ser80Phe
XM_017009778.2:c.329C>T	XP_016865267.1:p.Ser110Phe
XR_001742215.1:n.1198C>T
XR_001742216.1:n.1217C>T
XR_427718.2:n.1217C>T
XR_948290.2:n.1198C>T
XR_948291.2:n.1211C>T
NM_003060.4:c.857C>T MANE Select	NP_003051.1:p.Ser286Phe
NM_001308122.2:c.929C>T	NP_001295051.1:p.Ser310Phe