Canonical Allele Identifier: CA1307514221
Gene: SLC25A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171787719T= , CM000664.2:g.171787719T= GRCh38
NC_000002.11:g.172644229T= , CM000664.1:g.172644229T= GRCh37
NC_000002.10:g.172352475T= NCBI36
NG_011781.1:g.111585A=
NG_011781.2:g.111585A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.1745-58A= MANE Select ENSP00000388658.2:n.1745-58A=
ENST00000263812.8:c.*1365-58A= ENSP00000263812.4:n.*1365-58A=
ENST00000422440.6:c.1745-58A= ENSP00000388658.2:n.1745-58A=
ENST00000472070.1:n.1155-58A=
NM_003705.4:c.1745-58A= NP_003696.2:n.1745-58A=
NR_047549.1:n.1721-58A=
XM_005246923.3:c.1694-58A= XP_005246980.1:n.1694-58A=
XM_011512069.1:c.1744+70A= XP_011510371.1:n.1744+70A=
XM_011512070.1:c.1472-58A= XP_011510372.1:n.1472-58A=
XR_923577.1:n.2692-5805T=
XM_011512070.3:c.1472-58A= XP_011510372.1:n.1472-58A=
NM_003705.5:c.1745-58A= MANE Select NP_003696.2:n.1745-58A=
NR_047549.2:n.1659-58A=