Canonical Allele Identifier: CA349632884

Gene: SLC25A12

Linked Data

• dbSNP Id: rs2105905899
• MyVariant Identifiers: chr2:g.172712453G>C (hg19) ; chr2:g.171855943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855943G>C , CM000664.2:g.171855943G>C	GRCh38
NC_000002.11:g.172712453G>C , CM000664.1:g.172712453G>C	GRCh37
NC_000002.10:g.172420699G>C	NCBI36
NG_011781.1:g.43361C>G
NG_011781.2:g.43361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.216C>G MANE Select	ENSP00000388658.2:p.Ile72Met
ENST00000263812.8:c.210-11435C>G	ENSP00000263812.4:n.210-11435C>G
ENST00000422440.6:c.216C>G	ENSP00000388658.2:p.Ile72Met
ENST00000426896.5:c.216C>G	ENSP00000413968.1:p.Ile72Met
ENST00000464063.1:n.537C>G
ENST00000472748.5:n.381C>G
ENST00000475360.6:c.204C>G	ENSP00000437845.1:p.Ile68Met
ENST00000484227.5:n.414C>G
NM_003705.4:c.216C>G	NP_003696.2:p.Ile72Met
NR_047549.1:n.302-11435C>G
XM_005246923.3:c.165C>G	XP_005246980.1:p.Ile55Met
XM_011512069.1:c.216C>G	XP_011510371.1:p.Ile72Met
XM_011512070.1:c.-162C>G	XP_011510372.1:n.-162C>G
XM_011512070.3:c.-162C>G	XP_011510372.1:n.-162C>G
NM_003705.5:c.216C>G MANE Select	NP_003696.2:p.Ile72Met
NR_047549.2:n.240-11435C>G