Canonical Allele Identifier: CA1307543600
Gene: SLC25A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855514_171855515delinsTG , CM000664.2:g.171855514_171855515delinsTG GRCh38
NC_000002.11:g.172712024_172712025delinsTG , CM000664.1:g.172712024_172712025delinsTG GRCh37
NC_000002.10:g.172420270_172420271delinsTG NCBI36
NG_011781.1:g.43789_43790delinsCA
NG_011781.2:g.43789_43790delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.325+319_325+320delinsCA MANE Select ENSP00000388658.2:n.325+319_325+320delinsCA
ENST00000263812.8:c.210-11007_210-11006delinsCA ENSP00000263812.4:n.210-11007_210-11006delinsCA
ENST00000422440.6:c.325+319_325+320delinsCA ENSP00000388658.2:n.325+319_325+320delinsCA
ENST00000426896.5:c.325+319_325+320delinsCA ENSP00000413968.1:n.325+319_325+320delinsCA
ENST00000472748.5:n.490+319_490+320delinsCA
ENST00000475360.6:c.313+319_313+320delinsCA ENSP00000437845.1:n.313+319_313+320delinsCA
NM_003705.4:c.325+319_325+320delinsCA NP_003696.2:n.325+319_325+320delinsCA
NR_047549.1:n.302-11007_302-11006delinsCA
XM_005246923.3:c.274+319_274+320delinsCA XP_005246980.1:n.274+319_274+320delinsCA
XM_011512069.1:c.325+319_325+320delinsCA XP_011510371.1:n.325+319_325+320delinsCA
XM_011512070.1:c.-53+319_-53+320delinsCA XP_011510372.1:n.-53+319_-53+320delinsCA
XM_011512070.3:c.-53+319_-53+320delinsCA XP_011510372.1:n.-53+319_-53+320delinsCA
NM_003705.5:c.325+319_325+320delinsCA MANE Select NP_003696.2:n.325+319_325+320delinsCA
NR_047549.2:n.240-11007_240-11006delinsCA