Canonical Allele Identifier: CA3403758

Gene: SLC22A5

Linked Data

• dbSNP Id: rs746480923
• ExAC: 5:131705642 C / T
• gnomAD v2: 5-131705642-C-T
• gnomAD v3: 5-132369950-C-T
• gnomAD v4: 5-132369950-C-T
• MyVariant Identifiers: chr5:g.131705642C>T (hg19) ; chr5:g.132369950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132369950C>T , CM000667.2:g.132369950C>T	GRCh38
NC_000005.9:g.131705642C>T , CM000667.1:g.131705642C>T	GRCh37
NC_000005.8:g.131733541C>T	NCBI36
NG_008982.1:g.5242C>T
NG_008982.2:g.5247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.-23C>T	ENSP00000388838.2:n.-23C>T
ENST00000435065.7:c.-23C>T	ENSP00000402760.2:n.-23C>T
ENST00000448810.6:c.-23C>T	ENSP00000401860.2:n.-23C>T
ENST00000686757.1:c.-23C>T	ENSP00000510721.1:n.-23C>T
ENST00000687740.1:n.112C>T
ENST00000689271.1:c.-23C>T	ENSP00000510797.1:n.-23C>T
ENST00000690900.1:c.-23C>T	ENSP00000510703.1:n.-23C>T
ENST00000692413.1:c.-23C>T	ENSP00000509374.1:n.-23C>T
ENST00000693308.1:c.-23C>T	ENSP00000509770.1:n.-23C>T
ENST00000693763.1:n.112C>T
ENST00000245407.8:c.-23C>T MANE Select	ENSP00000245407.3:n.-23C>T
ENST00000245407.7:c.-23C>T	ENSP00000245407.3:n.-23C>T
ENST00000437841.6:c.-23C>T	ENSP00000400553.1:n.-23C>T
NM_001308122.1:c.-23C>T	NP_001295051.1:n.-23C>T
NM_003060.3:c.-23C>T	NP_003051.1:n.-23C>T
XR_427718.1:n.247C>T
XR_948290.1:n.247C>T
XR_948291.1:n.247C>T
XR_001742215.1:n.247C>T
XR_001742216.1:n.247C>T
XR_427718.2:n.247C>T
XR_948290.2:n.247C>T
XR_948291.2:n.247C>T
NM_003060.4:c.-23C>T MANE Select	NP_003051.1:n.-23C>T
NM_001308122.2:c.-23C>T	NP_001295051.1:n.-23C>T