Canonical Allele Identifier: CA12916240
Gene: SLCO5A1 HGNC NCBI

Linked Data

dbSNP Id: rs16936455
gnomAD v2: 8-70724754-A-G
gnomAD v3: 8-69812519-A-G
gnomAD v4: 8-69812519-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.69812519A>G , CM000670.2:g.69812519A>G GRCh38
NC_000008.10:g.70724754A>G , CM000670.1:g.70724754A>G GRCh37
NC_000008.9:g.70887308A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260126.9:c.907+19248T>C MANE Select ENSP00000260126.3:n.907+19248T>C
ENST00000260126.8:c.907+19248T>C ENSP00000260126.3:n.907+19248T>C
ENST00000524945.5:c.907+19248T>C ENSP00000434422.1:n.907+19248T>C
ENST00000526750.1:c.907+19248T>C ENSP00000432676.1:n.907+19248T>C
ENST00000528658.1:n.1516+19248T>C
ENST00000530307.1:c.907+19248T>C ENSP00000431611.1:n.907+19248T>C
ENST00000532388.5:n.1572+19248T>C
NM_001146008.1:c.907+19248T>C NP_001139480.1:n.907+19248T>C
NM_001146009.1:c.907+19248T>C NP_001139481.1:n.907+19248T>C
NM_030958.2:c.907+19248T>C NP_112220.2:n.907+19248T>C
XM_005251313.2:c.907+19248T>C XP_005251370.1:n.907+19248T>C
XR_428341.2:n.1614+19248T>C
XR_928814.1:n.1614+19248T>C
XM_017013883.1:c.907+19248T>C XP_016869372.1:n.907+19248T>C
XM_017013884.1:c.907+19248T>C XP_016869373.1:n.907+19248T>C
XM_017013886.1:c.907+19248T>C XP_016869375.1:n.907+19248T>C
NM_030958.3:c.907+19248T>C MANE Select NP_112220.2:n.907+19248T>C
NM_001146008.2:c.907+19248T>C NP_001139480.1:n.907+19248T>C