Canonical Allele Identifier: CA2606506777

Gene: SLC25A12

Linked Data

• dbSNP Id: rs2105906039
• gnomAD v3: 2-171856116-T-TATC
• gnomAD v4: 2-171856116-T-TATC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171856118_171856120dup , CM000664.2:g.171856118_171856120dup	GRCh38
NC_000002.11:g.172712628_172712630dup , CM000664.1:g.172712628_172712630dup	GRCh37
NC_000002.10:g.172420874_172420876dup	NCBI36
NG_011781.1:g.43185_43187dup
NG_011781.2:g.43185_43187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.210-170_210-168dup MANE Select	ENSP00000388658.2:n.210-170_210-168dup
ENST00000263812.8:c.210-11611_210-11609dup	ENSP00000263812.4:n.210-11611_210-11609dup
ENST00000422440.6:c.210-170_210-168dup	ENSP00000388658.2:n.210-170_210-168dup
ENST00000426896.5:c.210-170_210-168dup	ENSP00000413968.1:n.210-170_210-168dup
ENST00000464063.1:n.531-170_531-168dup
ENST00000472748.5:n.375-170_375-168dup
ENST00000475360.6:c.198-170_198-168dup	ENSP00000437845.1:n.198-170_198-168dup
ENST00000484227.5:n.408-170_408-168dup
NM_003705.4:c.210-170_210-168dup	NP_003696.2:n.210-170_210-168dup
NR_047549.1:n.302-11611_302-11609dup
XM_005246923.3:c.159-170_159-168dup	XP_005246980.1:n.159-170_159-168dup
XM_011512069.1:c.210-170_210-168dup	XP_011510371.1:n.210-170_210-168dup
XM_011512070.1:c.-168-170_-168-168dup	XP_011510372.1:n.-168-170_-168-168dup
XM_011512070.3:c.-168-170_-168-168dup	XP_011510372.1:n.-168-170_-168-168dup
NM_003705.5:c.210-170_210-168dup MANE Select	NP_003696.2:n.210-170_210-168dup
NR_047549.2:n.240-11611_240-11609dup