Canonical Allele Identifier: CA360808648

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728187T>G (hg19) ; chr5:g.132392495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392495T>G , CM000667.2:g.132392495T>G	GRCh38
NC_000005.9:g.131728187T>G , CM000667.1:g.131728187T>G	GRCh37
NC_000005.8:g.131756086T>G	NCBI36
NG_008982.1:g.27787T>G
NG_008982.2:g.27792T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1171T>G	ENSP00000388838.2:p.Ser391Ala
ENST00000435065.7:c.1402T>G	ENSP00000402760.2:p.Ser468Ala
ENST00000448810.6:c.*182T>G	ENSP00000401860.2:n.*182T>G
ENST00000685543.1:n.1471T>G
ENST00000686757.1:c.*494T>G	ENSP00000510721.1:n.*494T>G
ENST00000687740.1:n.4015T>G
ENST00000688151.1:n.2640T>G
ENST00000689271.1:c.1177T>G	ENSP00000510797.1:p.Ser393Ala
ENST00000690900.1:c.*494T>G	ENSP00000510703.1:n.*494T>G
ENST00000692212.1:n.4470T>G
ENST00000692355.1:c.583T>G
ENST00000692413.1:c.1312T>G	ENSP00000509374.1:p.Ser438Ala
ENST00000692825.1:c.1398T>G	ENSP00000509447.1:n.1398T>G
ENST00000693308.1:c.1378T>G	ENSP00000509770.1:p.Ser460Ala
ENST00000693763.1:n.2490T>G
ENST00000245407.8:c.1330T>G MANE Select	ENSP00000245407.3:p.Ser444Ala
ENST00000245407.7:c.1330T>G	ENSP00000245407.3:p.Ser444Ala
ENST00000435065.6:c.1402T>G	ENSP00000402760.2:p.Ser468Ala
ENST00000447841.5:c.174T>G
ENST00000448810.5:c.592T>G
ENST00000461013.5:n.8752T>G
ENST00000475308.1:n.2008T>G
ENST00000479605.5:n.433T>G
NM_001308122.1:c.1402T>G	NP_001295051.1:p.Ser468Ala
NM_003060.3:c.1330T>G	NP_003051.1:p.Ser444Ala
XM_011543590.1:c.712T>G	XP_011541892.1:p.Ser238Ala
XR_948290.1:n.1456T>G
XM_011543590.2:c.712T>G	XP_011541892.1:p.Ser238Ala
XM_017009778.2:c.802T>G	XP_016865267.1:p.Ser268Ala
XR_001742215.1:n.1585T>G
XR_001742216.1:n.1604T>G
XR_427718.2:n.1690T>G
XR_948290.2:n.1456T>G
XR_948291.2:n.1684T>G
NM_003060.4:c.1330T>G MANE Select	NP_003051.1:p.Ser444Ala
NM_001308122.2:c.1402T>G	NP_001295051.1:p.Ser468Ala