Canonical Allele Identifier: CA360807478

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726410C>T (hg19) ; chr5:g.132390718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390718C>T , CM000667.2:g.132390718C>T	GRCh38
NC_000005.9:g.131726410C>T , CM000667.1:g.131726410C>T	GRCh37
NC_000005.8:g.131754309C>T	NCBI36
NG_008982.1:g.26010C>T
NG_008982.2:g.26015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.922C>T	ENSP00000388838.2:p.Leu308Phe
ENST00000435065.7:c.1153C>T	ENSP00000402760.2:p.Leu385Phe
ENST00000448810.6:c.1053-58C>T	ENSP00000401860.2:n.1053-58C>T
ENST00000685543.1:n.1222C>T
ENST00000686757.1:c.*245C>T	ENSP00000510721.1:n.*245C>T
ENST00000687740.1:n.3766C>T
ENST00000688151.1:n.2391C>T
ENST00000689271.1:c.928C>T	ENSP00000510797.1:p.Leu310Phe
ENST00000690900.1:c.*245C>T	ENSP00000510703.1:n.*245C>T
ENST00000692212.1:n.2693C>T
ENST00000692355.1:c.334C>T
ENST00000692413.1:c.1063C>T	ENSP00000509374.1:p.Leu355Phe
ENST00000692825.1:c.1149C>T	ENSP00000509447.1:n.1149C>T
ENST00000693308.1:c.1129C>T	ENSP00000509770.1:p.Leu377Phe
ENST00000693763.1:n.2241C>T
ENST00000245407.8:c.1081C>T MANE Select	ENSP00000245407.3:p.Leu361Phe
ENST00000245407.7:c.1081C>T	ENSP00000245407.3:p.Leu361Phe
ENST00000435065.6:c.1153C>T	ENSP00000402760.2:p.Leu385Phe
ENST00000447841.5:c.111+1697C>T
ENST00000448810.5:c.401-58C>T
ENST00000461013.5:n.8503C>T
ENST00000475308.1:n.1759C>T
ENST00000479605.5:n.184C>T
NM_001308122.1:c.1153C>T	NP_001295051.1:p.Leu385Phe
NM_003060.3:c.1081C>T	NP_003051.1:p.Leu361Phe
XM_011543590.1:c.463C>T	XP_011541892.1:p.Leu155Phe
XR_427718.1:n.1441C>T
XR_948290.1:n.1393+1697C>T
XR_948291.1:n.1435C>T
XM_011543590.2:c.463C>T	XP_011541892.1:p.Leu155Phe
XM_017009778.2:c.553C>T	XP_016865267.1:p.Leu185Phe
XR_001742215.1:n.1394-58C>T
XR_001742216.1:n.1413-58C>T
XR_427718.2:n.1441C>T
XR_948290.2:n.1393+1697C>T
XR_948291.2:n.1435C>T
NM_003060.4:c.1081C>T MANE Select	NP_003051.1:p.Leu361Phe
NM_001308122.2:c.1153C>T	NP_001295051.1:p.Leu385Phe