Canonical Allele Identifier: CA349287848

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172644353A>G (hg19) ; chr2:g.171787843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171787843A>G , CM000664.2:g.171787843A>G	GRCh38
NC_000002.11:g.172644353A>G , CM000664.1:g.172644353A>G	GRCh37
NC_000002.10:g.172352599A>G	NCBI36
NG_011781.1:g.111461T>C
NG_011781.2:g.111461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.1690T>C MANE Select	ENSP00000388658.2:p.Phe564Leu
ENST00000263812.8:c.*1310T>C	ENSP00000263812.4:n.*1310T>C
ENST00000422440.6:c.1690T>C	ENSP00000388658.2:p.Phe564Leu
ENST00000472070.1:n.1100T>C
NM_003705.4:c.1690T>C	NP_003696.2:p.Phe564Leu
NR_047549.1:n.1666T>C
XM_005246923.3:c.1639T>C	XP_005246980.1:p.Phe547Leu
XM_011512069.1:c.1690T>C	XP_011510371.1:p.Phe564Leu
XM_011512070.1:c.1417T>C	XP_011510372.1:p.Phe473Leu
XR_923577.1:n.2692-5681A>G
XM_011512070.3:c.1417T>C	XP_011510372.1:p.Phe473Leu
NM_003705.5:c.1690T>C MANE Select	NP_003696.2:p.Phe564Leu
NR_047549.2:n.1604T>C