Canonical Allele Identifier: CA2577157800
Gene: SLC25A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171855772C>T , CM000664.2:g.171855772C>T GRCh38
NC_000002.11:g.172712282C>T , CM000664.1:g.172712282C>T GRCh37
NC_000002.10:g.172420528C>T NCBI36
NG_011781.1:g.43532G>A
NG_011781.2:g.43532G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.325+62G>A MANE Select ENSP00000388658.2:n.325+62G>A
ENST00000263812.8:c.210-11264G>A ENSP00000263812.4:n.210-11264G>A
ENST00000422440.6:c.325+62G>A ENSP00000388658.2:n.325+62G>A
ENST00000426896.5:c.325+62G>A ENSP00000413968.1:n.325+62G>A
ENST00000472748.5:n.490+62G>A
ENST00000475360.6:c.313+62G>A ENSP00000437845.1:n.313+62G>A
NM_003705.4:c.325+62G>A NP_003696.2:n.325+62G>A
NR_047549.1:n.302-11264G>A
XM_005246923.3:c.274+62G>A XP_005246980.1:n.274+62G>A
XM_011512069.1:c.325+62G>A XP_011510371.1:n.325+62G>A
XM_011512070.1:c.-53+62G>A XP_011510372.1:n.-53+62G>A
XM_011512070.3:c.-53+62G>A XP_011510372.1:n.-53+62G>A
NM_003705.5:c.325+62G>A MANE Select NP_003696.2:n.325+62G>A
NR_047549.2:n.240-11264G>A