Canonical Allele Identifier: CA1307543705
Gene: SLC25A12 HGNC NCBI

Linked Data

dbSNP Id: rs1685033177

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855804_171855805del , CM000664.2:g.171855804_171855805del GRCh38
NC_000002.11:g.172712314_172712315del , CM000664.1:g.172712314_172712315del GRCh37
NC_000002.10:g.172420560_172420561del NCBI36
NG_011781.1:g.43499_43500del
NG_011781.2:g.43499_43500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.325+29_325+30del MANE Select ENSP00000388658.2:n.325+29_325+30del
ENST00000263812.8:c.210-11297_210-11296del ENSP00000263812.4:n.210-11297_210-11296del
ENST00000422440.6:c.325+29_325+30del ENSP00000388658.2:n.325+29_325+30del
ENST00000426896.5:c.325+29_325+30del ENSP00000413968.1:n.325+29_325+30del
ENST00000472748.5:n.490+29_490+30del
ENST00000475360.6:c.313+29_313+30del ENSP00000437845.1:n.313+29_313+30del
ENST00000484227.5:n.552_553del
NM_003705.4:c.325+29_325+30del NP_003696.2:n.325+29_325+30del
NR_047549.1:n.302-11297_302-11296del
XM_005246923.3:c.274+29_274+30del XP_005246980.1:n.274+29_274+30del
XM_011512069.1:c.325+29_325+30del XP_011510371.1:n.325+29_325+30del
XM_011512070.1:c.-53+29_-53+30del XP_011510372.1:n.-53+29_-53+30del
XM_011512070.3:c.-53+29_-53+30del XP_011510372.1:n.-53+29_-53+30del
NM_003705.5:c.325+29_325+30del MANE Select NP_003696.2:n.325+29_325+30del
NR_047549.2:n.240-11297_240-11296del