Canonical Allele Identifier: CA360807853

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726590C>A (hg19) ; chr5:g.132390898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390898C>A , CM000667.2:g.132390898C>A	GRCh38
NC_000005.9:g.131726590C>A , CM000667.1:g.131726590C>A	GRCh37
NC_000005.8:g.131754489C>A	NCBI36
NG_008982.1:g.26190C>A
NG_008982.2:g.26195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1102C>A	ENSP00000388838.2:p.Pro368Thr
ENST00000435065.7:c.1333C>A	ENSP00000402760.2:p.Pro445Thr
ENST00000448810.6:c.*113C>A	ENSP00000401860.2:n.*113C>A
ENST00000685543.1:n.1402C>A
ENST00000686757.1:c.*425C>A	ENSP00000510721.1:n.*425C>A
ENST00000687740.1:n.3946C>A
ENST00000688151.1:n.2571C>A
ENST00000689271.1:c.1108C>A	ENSP00000510797.1:p.Pro370Thr
ENST00000690900.1:c.*425C>A	ENSP00000510703.1:n.*425C>A
ENST00000692212.1:n.2873C>A
ENST00000692355.1:c.514C>A
ENST00000692413.1:c.1243C>A	ENSP00000509374.1:p.Pro415Thr
ENST00000692825.1:c.1329C>A	ENSP00000509447.1:n.1329C>A
ENST00000693308.1:c.1309C>A	ENSP00000509770.1:p.Pro437Thr
ENST00000693763.1:n.2421C>A
ENST00000245407.8:c.1261C>A MANE Select	ENSP00000245407.3:p.Pro421Thr
ENST00000245407.7:c.1261C>A	ENSP00000245407.3:p.Pro421Thr
ENST00000435065.6:c.1333C>A	ENSP00000402760.2:p.Pro445Thr
ENST00000447841.5:c.112-1535C>A
ENST00000448810.5:c.523C>A
ENST00000461013.5:n.8683C>A
ENST00000475308.1:n.1939C>A
ENST00000479605.5:n.364C>A
NM_001308122.1:c.1333C>A	NP_001295051.1:p.Pro445Thr
NM_003060.3:c.1261C>A	NP_003051.1:p.Pro421Thr
XM_011543590.1:c.643C>A	XP_011541892.1:p.Pro215Thr
XR_427718.1:n.1621C>A
XR_948290.1:n.1394-1535C>A
XR_948291.1:n.1615C>A
XM_011543590.2:c.643C>A	XP_011541892.1:p.Pro215Thr
XM_017009778.2:c.733C>A	XP_016865267.1:p.Pro245Thr
XR_001742215.1:n.1516C>A
XR_001742216.1:n.1535C>A
XR_427718.2:n.1621C>A
XR_948290.2:n.1394-1535C>A
XR_948291.2:n.1615C>A
NM_003060.4:c.1261C>A MANE Select	NP_003051.1:p.Pro421Thr
NM_001308122.2:c.1333C>A	NP_001295051.1:p.Pro445Thr