Canonical Allele Identifier: CA429841919

Gene: SLC25A12

Linked Data

• ClinVar Variation Id: 2825021
• ClinVar RCV Id: RCV003678435
• MyVariant Identifiers: chr2:g.172712396G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855886G>A , CM000664.2:g.171855886G>A	GRCh38
NC_000002.11:g.172712396G>A , CM000664.1:g.172712396G>A	GRCh37
NC_000002.10:g.172420642G>A	NCBI36
NG_011781.1:g.43418C>T
NG_011781.2:g.43418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.273C>T MANE Select	ENSP00000388658.2:p.Phe91=
ENST00000263812.8:c.210-11378C>T	ENSP00000263812.4:n.210-11378C>T
ENST00000422440.6:c.273C>T	ENSP00000388658.2:p.Phe91=
ENST00000426896.5:c.273C>T	ENSP00000413968.1:p.Phe91=
ENST00000472748.5:n.438C>T
ENST00000475360.6:c.261C>T	ENSP00000437845.1:p.Phe87=
ENST00000484227.5:n.471C>T
NM_003705.4:c.273C>T	NP_003696.2:p.Phe91=
NR_047549.1:n.302-11378C>T
XM_005246923.3:c.222C>T	XP_005246980.1:p.Phe74=
XM_011512069.1:c.273C>T	XP_011510371.1:p.Phe91=
XM_011512070.1:c.-105C>T	XP_011510372.1:n.-105C>T
XM_011512070.3:c.-105C>T	XP_011510372.1:n.-105C>T
NM_003705.5:c.273C>T MANE Select	NP_003696.2:p.Phe91=
NR_047549.2:n.240-11378C>T