Canonical Allele Identifier: CA360805512

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722722T>G (hg19) ; chr5:g.132387030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387030T>G , CM000667.2:g.132387030T>G	GRCh38
NC_000005.9:g.131722722T>G , CM000667.1:g.131722722T>G	GRCh37
NC_000005.8:g.131750621T>G	NCBI36
NG_008982.1:g.22322T>G
NG_008982.2:g.22327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.671T>G	ENSP00000388838.2:p.Ile224Ser
ENST00000435065.7:c.902T>G	ENSP00000402760.2:p.Ile301Ser
ENST00000448810.6:c.830T>G	ENSP00000401860.2:p.Ile277Ser
ENST00000686757.1:c.849T>G	ENSP00000510721.1:p.His283Gln
ENST00000687740.1:n.3515T>G
ENST00000688151.1:n.2140T>G
ENST00000689271.1:c.677T>G	ENSP00000510797.1:p.Ile226Ser
ENST00000690900.1:c.801T>G	ENSP00000510703.1:p.His267Gln
ENST00000692212.1:n.774T>G
ENST00000692355.1:c.205-1891T>G
ENST00000692413.1:c.844-32T>G	ENSP00000509374.1:n.844-32T>G
ENST00000692825.1:c.898T>G	ENSP00000509447.1:n.898T>G
ENST00000693308.1:c.878T>G	ENSP00000509770.1:p.Ile293Ser
ENST00000693763.1:n.1990T>G
ENST00000245407.8:c.830T>G MANE Select	ENSP00000245407.3:p.Ile277Ser
ENST00000245407.7:c.830T>G	ENSP00000245407.3:p.Ile277Ser
ENST00000415928.5:c.599T>G	ENSP00000388838.1:p.Ile200Ser
ENST00000435065.6:c.902T>G	ENSP00000402760.2:p.Ile301Ser
ENST00000437841.6:c.*145T>G	ENSP00000400553.1:n.*145T>G
ENST00000448810.5:c.178T>G
ENST00000461013.5:n.8252T>G
NM_001308122.1:c.902T>G	NP_001295051.1:p.Ile301Ser
NM_003060.3:c.830T>G	NP_003051.1:p.Ile277Ser
XM_011543590.1:c.212T>G	XP_011541892.1:p.Ile71Ser
XR_427718.1:n.1190T>G
XR_948290.1:n.1171T>G
XR_948291.1:n.1184T>G
XM_011543590.2:c.212T>G	XP_011541892.1:p.Ile71Ser
XM_017009778.2:c.302T>G	XP_016865267.1:p.Ile101Ser
XR_001742215.1:n.1171T>G
XR_001742216.1:n.1190T>G
XR_427718.2:n.1190T>G
XR_948290.2:n.1171T>G
XR_948291.2:n.1184T>G
NM_003060.4:c.830T>G MANE Select	NP_003051.1:p.Ile277Ser
NM_001308122.2:c.902T>G	NP_001295051.1:p.Ile301Ser