Canonical Allele Identifier: CA12928924
Community Standard Title: NM_030958.3(SLCO5A1):c.1424-104C>T
Gene: SLCO5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.69705333G>A , CM000670.2:g.69705333G>A GRCh38
NC_000008.10:g.70617568G>A , CM000670.1:g.70617568G>A GRCh37
NC_000008.9:g.70780122G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030958.3:c.1424-104C>T MANE Select NP_112220.2:n.1424-104C>T
ENST00000260126.9:c.1424-104C>T MANE Select ENSP00000260126.3:n.1424-104C>T
NM_001146008.1:c.1424-104C>T NP_001139480.1:n.1424-104C>T
NM_001146008.2:c.1424-104C>T NP_001139480.1:n.1424-104C>T
NM_001146009.1:c.1259-104C>T NP_001139481.1:n.1259-104C>T
NM_030958.2:c.1424-104C>T NP_112220.2:n.1424-104C>T
ENST00000260126.8:c.1424-104C>T ENSP00000260126.3:n.1424-104C>T
ENST00000524945.5:c.1424-104C>T ENSP00000434422.1:n.1424-104C>T
ENST00000526750.1:c.908-22990C>T ENSP00000432676.1:n.908-22990C>T
ENST00000530307.1:c.1259-104C>T ENSP00000431611.1:n.1259-104C>T
ENST00000532388.5:n.1924-104C>T
XM_005251313.2:c.1259-104C>T XP_005251370.1:n.1259-104C>T
XM_017013883.1:c.1424-104C>T XP_016869372.1:n.1424-104C>T
XM_017013884.1:c.1424-104C>T XP_016869373.1:n.1424-104C>T
XM_017013885.1:c.512-104C>T XP_016869374.1:n.512-104C>T
XR_428341.2:n.2131-22990C>T
XR_928814.1:n.1966-22990C>T