Canonical Allele Identifier: CA1307530336
Community Standard Title: NM_003705.5(SLC25A12):c.930+2630T=
Gene: SLC25A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171824168A= , CM000664.2:g.171824168A= GRCh38
NC_000002.11:g.172680678A= , CM000664.1:g.172680678A= GRCh37
NC_000002.10:g.172388924A= NCBI36
NG_011781.1:g.75136T=
NG_011781.2:g.75136T=

Transcript Alleles

HGVS Amino-acid Change
NM_003705.5:c.930+2630T= MANE Select NP_003696.2:n.930+2630T=
ENST00000422440.7:c.930+2630T= MANE Select ENSP00000388658.2:n.930+2630T=
NM_003705.4:c.930+2630T= NP_003696.2:n.930+2630T=
NR_047549.1:n.906+2630T=
NR_047549.2:n.844+2630T=
ENST00000263812.8:c.*550+2630T= ENSP00000263812.4:n.*550+2630T=
ENST00000422440.6:c.930+2630T= ENSP00000388658.2:n.930+2630T=
ENST00000485880.1:n.458+2630T=
XM_005246923.3:c.879+2630T= XP_005246980.1:n.879+2630T=
XM_011512069.1:c.930+2630T= XP_011510371.1:n.930+2630T=
XM_011512070.1:c.657+2630T= XP_011510372.1:n.657+2630T=
XM_011512070.3:c.657+2630T= XP_011510372.1:n.657+2630T=