Canonical Allele Identifier: CA360805023

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1368930204
• gnomAD v2: 5-131721065-T-G
• gnomAD v4: 5-132385373-T-G
• MyVariant Identifiers: chr5:g.131721065T>G (hg19) ; chr5:g.132385373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385373T>G , CM000667.2:g.132385373T>G	GRCh38
NC_000005.9:g.131721065T>G , CM000667.1:g.131721065T>G	GRCh37
NC_000005.8:g.131748964T>G	NCBI36
NG_008982.1:g.20665T>G
NG_008982.2:g.20670T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1059T>G	ENSP00000388838.2:n.665+1059T>G
ENST00000435065.7:c.770T>G	ENSP00000402760.2:p.Leu257Ter
ENST00000448810.6:c.698T>G	ENSP00000401860.2:p.Leu233Ter
ENST00000686757.1:c.717T>G	ENSP00000510721.1:p.Val239=
ENST00000687740.1:n.1858T>G
ENST00000688151.1:n.1890T>G
ENST00000689271.1:c.671+1053T>G	ENSP00000510797.1:n.671+1053T>G
ENST00000690900.1:c.672-3T>G	ENSP00000510703.1:n.672-3T>G
ENST00000692212.1:n.524T>G
ENST00000692355.1:c.204+1072T>G
ENST00000692413.1:c.717T>G	ENSP00000509374.1:p.Val239=
ENST00000692825.1:c.766T>G	ENSP00000509447.1:n.766T>G
ENST00000693308.1:c.711T>G	ENSP00000509770.1:p.Val237=
ENST00000693763.1:n.1858T>G
ENST00000245407.8:c.698T>G MANE Select	ENSP00000245407.3:p.Leu233Ter
ENST00000245407.7:c.698T>G	ENSP00000245407.3:p.Leu233Ter
ENST00000415928.5:c.467T>G	ENSP00000388838.1:p.Leu156Ter
ENST00000435065.6:c.770T>G	ENSP00000402760.2:p.Leu257Ter
ENST00000437841.6:c.*13T>G	ENSP00000400553.1:n.*13T>G
ENST00000448810.5:c.46T>G
ENST00000461013.5:n.8120T>G
NM_001308122.1:c.770T>G	NP_001295051.1:p.Leu257Ter
NM_003060.3:c.698T>G	NP_003051.1:p.Leu233Ter
XM_011543590.1:c.80T>G	XP_011541892.1:p.Leu27Ter
XR_427718.1:n.1058T>G
XR_948290.1:n.1039T>G
XR_948291.1:n.1052T>G
XM_011543590.2:c.80T>G	XP_011541892.1:p.Leu27Ter
XM_017009778.2:c.170T>G	XP_016865267.1:p.Leu57Ter
XR_001742215.1:n.1039T>G
XR_001742216.1:n.1058T>G
XR_427718.2:n.1058T>G
XR_948290.2:n.1039T>G
XR_948291.2:n.1052T>G
NM_003060.4:c.698T>G MANE Select	NP_003051.1:p.Leu233Ter
NM_001308122.2:c.770T>G	NP_001295051.1:p.Leu257Ter