Canonical Allele Identifier: CA1307514189

Gene: SLC25A12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171787637T= , CM000664.2:g.171787637T=	GRCh38
NC_000002.11:g.172644147T= , CM000664.1:g.172644147T=	GRCh37
NC_000002.10:g.172352393T=	NCBI36
NG_011781.1:g.111667A=
NG_011781.2:g.111667A=

Transcript Alleles

HGVS	Amino-acid Change
NM_003705.5:c.1769A= MANE Select	NP_003696.2:p.Gln590=
ENST00000422440.7:c.1769A= MANE Select	ENSP00000388658.2:p.Gln590=
NM_003705.4:c.1769A=	NP_003696.2:p.Gln590=
NR_047549.1:n.1745A=
NR_047549.2:n.1683A=
ENST00000263812.8:c.*1389A=	ENSP00000263812.4:n.*1389A=
ENST00000422440.6:c.1769A=	ENSP00000388658.2:p.Gln590=
ENST00000472070.1:n.1179A=
XM_005246923.3:c.1718A=	XP_005246980.1:p.Gln573=
XM_011512069.1:c.1744+152A=	XP_011510371.1:n.1744+152A=
XM_011512070.1:c.1496A=	XP_011510372.1:p.Gln499=
XM_011512070.3:c.1496A=	XP_011510372.1:p.Gln499=
XR_923577.1:n.2692-5887T=