Canonical Allele Identifier: CA349632572

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1685035432
• MyVariant Identifiers: chr2:g.172712422C>T (hg19) ; chr2:g.171855912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855912C>T , CM000664.2:g.171855912C>T	GRCh38
NC_000002.11:g.172712422C>T , CM000664.1:g.172712422C>T	GRCh37
NC_000002.10:g.172420668C>T	NCBI36
NG_011781.1:g.43392G>A
NG_011781.2:g.43392G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000422440.7:c.247G>A MANE Select	ENSP00000388658.2:p.Val83Ile
ENST00000263812.8:c.210-11404G>A	ENSP00000263812.4:n.210-11404G>A
ENST00000422440.6:c.247G>A	ENSP00000388658.2:p.Val83Ile
ENST00000426896.5:c.247G>A	ENSP00000413968.1:p.Val83Ile
ENST00000472748.5:n.412G>A
ENST00000475360.6:c.235G>A	ENSP00000437845.1:p.Val79Ile
ENST00000484227.5:n.445G>A
NM_003705.4:c.247G>A	NP_003696.2:p.Val83Ile
NR_047549.1:n.302-11404G>A
XM_005246923.3:c.196G>A	XP_005246980.1:p.Val66Ile
XM_011512069.1:c.247G>A	XP_011510371.1:p.Val83Ile
XM_011512070.1:c.-131G>A	XP_011510372.1:n.-131G>A
XM_011512070.3:c.-131G>A	XP_011510372.1:n.-131G>A
NM_003705.5:c.247G>A MANE Select	NP_003696.2:p.Val83Ile
NR_047549.2:n.240-11404G>A