Canonical Allele Identifier: CA360805129

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385422-T-G
• MyVariant Identifiers: chr5:g.131721114T>G (hg19) ; chr5:g.132385422T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385422T>G , CM000667.2:g.132385422T>G	GRCh38
NC_000005.9:g.131721114T>G , CM000667.1:g.131721114T>G	GRCh37
NC_000005.8:g.131749013T>G	NCBI36
NG_008982.1:g.20714T>G
NG_008982.2:g.20719T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1108T>G	ENSP00000388838.2:n.665+1108T>G
ENST00000435065.7:c.819T>G	ENSP00000402760.2:p.Phe273Leu
ENST00000448810.6:c.747T>G	ENSP00000401860.2:p.Phe249Leu
ENST00000686757.1:c.766T>G	ENSP00000510721.1:p.Cys256Gly
ENST00000687740.1:n.1907T>G
ENST00000688151.1:n.1939T>G
ENST00000689271.1:c.671+1102T>G	ENSP00000510797.1:n.671+1102T>G
ENST00000690900.1:c.718T>G	ENSP00000510703.1:p.Cys240Gly
ENST00000692212.1:n.573T>G
ENST00000692355.1:c.204+1121T>G
ENST00000692413.1:c.766T>G	ENSP00000509374.1:p.Cys256Gly
ENST00000692825.1:c.815T>G	ENSP00000509447.1:n.815T>G
ENST00000693308.1:c.760T>G	ENSP00000509770.1:p.Cys254Gly
ENST00000693763.1:n.1907T>G
ENST00000245407.8:c.747T>G MANE Select	ENSP00000245407.3:p.Phe249Leu
ENST00000245407.7:c.747T>G	ENSP00000245407.3:p.Phe249Leu
ENST00000415928.5:c.516T>G	ENSP00000388838.1:p.Phe172Leu
ENST00000435065.6:c.819T>G	ENSP00000402760.2:p.Phe273Leu
ENST00000437841.6:c.*62T>G	ENSP00000400553.1:n.*62T>G
ENST00000448810.5:c.95T>G
ENST00000461013.5:n.8169T>G
NM_001308122.1:c.819T>G	NP_001295051.1:p.Phe273Leu
NM_003060.3:c.747T>G	NP_003051.1:p.Phe249Leu
XM_011543590.1:c.129T>G	XP_011541892.1:p.Phe43Leu
XR_427718.1:n.1107T>G
XR_948290.1:n.1088T>G
XR_948291.1:n.1101T>G
XM_011543590.2:c.129T>G	XP_011541892.1:p.Phe43Leu
XM_017009778.2:c.219T>G	XP_016865267.1:p.Phe73Leu
XR_001742215.1:n.1088T>G
XR_001742216.1:n.1107T>G
XR_427718.2:n.1107T>G
XR_948290.2:n.1088T>G
XR_948291.2:n.1101T>G
NM_003060.4:c.747T>G MANE Select	NP_003051.1:p.Phe249Leu
NM_001308122.2:c.819T>G	NP_001295051.1:p.Phe273Leu