Canonical Allele Identifier: CA349632871

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1376678275
• gnomAD v2: 2-172712451-G-C
• gnomAD v3: 2-171855941-G-C
• gnomAD v4: 2-171855941-G-C
• COSMIC: COSM717734
• MyVariant Identifiers: chr2:g.172712451G>C (hg19) ; chr2:g.171855941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855941G>C , CM000664.2:g.171855941G>C	GRCh38
NC_000002.11:g.172712451G>C , CM000664.1:g.172712451G>C	GRCh37
NC_000002.10:g.172420697G>C	NCBI36
NG_011781.1:g.43363C>G
NG_011781.2:g.43363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.218C>G MANE Select	ENSP00000388658.2:p.Ser73Cys
ENST00000263812.8:c.210-11433C>G	ENSP00000263812.4:n.210-11433C>G
ENST00000422440.6:c.218C>G	ENSP00000388658.2:p.Ser73Cys
ENST00000426896.5:c.218C>G	ENSP00000413968.1:p.Ser73Cys
ENST00000464063.1:n.539C>G
ENST00000472748.5:n.383C>G
ENST00000475360.6:c.206C>G	ENSP00000437845.1:p.Ser69Cys
ENST00000484227.5:n.416C>G
NM_003705.4:c.218C>G	NP_003696.2:p.Ser73Cys
NR_047549.1:n.302-11433C>G
XM_005246923.3:c.167C>G	XP_005246980.1:p.Ser56Cys
XM_011512069.1:c.218C>G	XP_011510371.1:p.Ser73Cys
XM_011512070.1:c.-160C>G	XP_011510372.1:n.-160C>G
XM_011512070.3:c.-160C>G	XP_011510372.1:n.-160C>G
NM_003705.5:c.218C>G MANE Select	NP_003696.2:p.Ser73Cys
NR_047549.2:n.240-11433C>G