Canonical Allele Identifier: CA349287837

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172644351G>C (hg19) ; chr2:g.171787841G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171787841G>C , CM000664.2:g.171787841G>C	GRCh38
NC_000002.11:g.172644351G>C , CM000664.1:g.172644351G>C	GRCh37
NC_000002.10:g.172352597G>C	NCBI36
NG_011781.1:g.111463C>G
NG_011781.2:g.111463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.1692C>G MANE Select	ENSP00000388658.2:p.Phe564Leu
ENST00000263812.8:c.*1312C>G	ENSP00000263812.4:n.*1312C>G
ENST00000422440.6:c.1692C>G	ENSP00000388658.2:p.Phe564Leu
ENST00000472070.1:n.1102C>G
NM_003705.4:c.1692C>G	NP_003696.2:p.Phe564Leu
NR_047549.1:n.1668C>G
XM_005246923.3:c.1641C>G	XP_005246980.1:p.Phe547Leu
XM_011512069.1:c.1692C>G	XP_011510371.1:p.Phe564Leu
XM_011512070.1:c.1419C>G	XP_011510372.1:p.Phe473Leu
XR_923577.1:n.2692-5683G>C
XM_011512070.3:c.1419C>G	XP_011510372.1:p.Phe473Leu
NM_003705.5:c.1692C>G MANE Select	NP_003696.2:p.Phe564Leu
NR_047549.2:n.1606C>G