Canonical Allele Identifier: CA1307543829

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1685039706
• gnomAD v4: 2-171856096-GAAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171856102_171856106del , CM000664.2:g.171856102_171856106del	GRCh38
NC_000002.11:g.172712612_172712616del , CM000664.1:g.172712612_172712616del	GRCh37
NC_000002.10:g.172420858_172420862del	NCBI36
NG_011781.1:g.43203_43207del
NG_011781.2:g.43203_43207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.210-152_210-148del MANE Select	ENSP00000388658.2:n.210-152_210-148del
ENST00000263812.8:c.210-11593_210-11589del	ENSP00000263812.4:n.210-11593_210-11589del
ENST00000422440.6:c.210-152_210-148del	ENSP00000388658.2:n.210-152_210-148del
ENST00000426896.5:c.210-152_210-148del	ENSP00000413968.1:n.210-152_210-148del
ENST00000464063.1:n.531-152_531-148del
ENST00000472748.5:n.375-152_375-148del
ENST00000475360.6:c.198-152_198-148del	ENSP00000437845.1:n.198-152_198-148del
ENST00000484227.5:n.408-152_408-148del
NM_003705.4:c.210-152_210-148del	NP_003696.2:n.210-152_210-148del
NR_047549.1:n.302-11593_302-11589del
XM_005246923.3:c.159-152_159-148del	XP_005246980.1:n.159-152_159-148del
XM_011512069.1:c.210-152_210-148del	XP_011510371.1:n.210-152_210-148del
XM_011512070.1:c.-168-152_-168-148del	XP_011510372.1:n.-168-152_-168-148del
XM_011512070.3:c.-168-152_-168-148del	XP_011510372.1:n.-168-152_-168-148del
NM_003705.5:c.210-152_210-148del MANE Select	NP_003696.2:n.210-152_210-148del
NR_047549.2:n.240-11593_240-11589del