Canonical Allele Identifier: CA360805128

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721113T>G (hg19) ; chr5:g.132385421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385421T>G , CM000667.2:g.132385421T>G	GRCh38
NC_000005.9:g.131721113T>G , CM000667.1:g.131721113T>G	GRCh37
NC_000005.8:g.131749012T>G	NCBI36
NG_008982.1:g.20713T>G
NG_008982.2:g.20718T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1107T>G	ENSP00000388838.2:n.665+1107T>G
ENST00000435065.7:c.818T>G	ENSP00000402760.2:p.Phe273Cys
ENST00000448810.6:c.746T>G	ENSP00000401860.2:p.Phe249Cys
ENST00000686757.1:c.765T>G	ENSP00000510721.1:p.Val255=
ENST00000687740.1:n.1906T>G
ENST00000688151.1:n.1938T>G
ENST00000689271.1:c.671+1101T>G	ENSP00000510797.1:n.671+1101T>G
ENST00000690900.1:c.717T>G	ENSP00000510703.1:p.Val239=
ENST00000692212.1:n.572T>G
ENST00000692355.1:c.204+1120T>G
ENST00000692413.1:c.765T>G	ENSP00000509374.1:p.Val255=
ENST00000692825.1:c.814T>G	ENSP00000509447.1:n.814T>G
ENST00000693308.1:c.759T>G	ENSP00000509770.1:p.Val253=
ENST00000693763.1:n.1906T>G
ENST00000245407.8:c.746T>G MANE Select	ENSP00000245407.3:p.Phe249Cys
ENST00000245407.7:c.746T>G	ENSP00000245407.3:p.Phe249Cys
ENST00000415928.5:c.515T>G	ENSP00000388838.1:p.Phe172Cys
ENST00000435065.6:c.818T>G	ENSP00000402760.2:p.Phe273Cys
ENST00000437841.6:c.*61T>G	ENSP00000400553.1:n.*61T>G
ENST00000448810.5:c.94T>G
ENST00000461013.5:n.8168T>G
NM_001308122.1:c.818T>G	NP_001295051.1:p.Phe273Cys
NM_003060.3:c.746T>G	NP_003051.1:p.Phe249Cys
XM_011543590.1:c.128T>G	XP_011541892.1:p.Phe43Cys
XR_427718.1:n.1106T>G
XR_948290.1:n.1087T>G
XR_948291.1:n.1100T>G
XM_011543590.2:c.128T>G	XP_011541892.1:p.Phe43Cys
XM_017009778.2:c.218T>G	XP_016865267.1:p.Phe73Cys
XR_001742215.1:n.1087T>G
XR_001742216.1:n.1106T>G
XR_427718.2:n.1106T>G
XR_948290.2:n.1087T>G
XR_948291.2:n.1100T>G
NM_003060.4:c.746T>G MANE Select	NP_003051.1:p.Phe249Cys
NM_001308122.2:c.818T>G	NP_001295051.1:p.Phe273Cys