Canonical Allele Identifier: CA60942247

Gene: SLC25A12

Linked Data

• dbSNP Id: rs764529435
• MyVariant Identifiers: chr2:g.172712024_172712025insG (hg19) ; chr2:g.171855514_171855515insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855515dup , CM000664.2:g.171855515dup	GRCh38
NC_000002.11:g.172712025dup , CM000664.1:g.172712025dup	GRCh37
NC_000002.10:g.172420271dup	NCBI36
NG_011781.1:g.43789dup
NG_011781.2:g.43789dup

Transcript Alleles

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