Canonical Allele Identifier: CA6732792

Gene: SLC25A3

Linked Data

• ClinVar Variation Id: 378597
• ClinVar RCV Id: RCV000425361 ; RCV002061514
• dbSNP Id: rs373222952
• ExAC: 12:98987811 C / T
• gnomAD v2: 12-98987811-C-T
• gnomAD v3: 12-98594033-C-T
• gnomAD v4: 12-98594033-C-T
• MyVariant Identifiers: chr12:g.98987811C>T (hg19) ; chr12:g.98594033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98594033C>T , CM000674.2:g.98594033C>T	GRCh38
NC_000012.11:g.98987811C>T , CM000674.1:g.98987811C>T	GRCh37
NC_000012.10:g.97511942C>T	NCBI36
NG_011702.1:g.5409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228318.8:c.55C>T MANE Plus Clinical	ENSP00000228318.3:p.Leu19=
ENST00000552981.6:c.55C>T MANE Select	ENSP00000448708.2:p.Leu19=
ENST00000188376.9:c.55C>T	ENSP00000188376.5:p.Leu19=
ENST00000228318.7:c.55C>T	ENSP00000228318.3:p.Leu19=
ENST00000401722.7:c.55C>T	ENSP00000383898.3:p.Leu19=
ENST00000546766.5:n.145C>T
ENST00000547534.5:c.55C>T	ENSP00000449793.1:p.Leu19=
ENST00000548046.5:c.55C>T	ENSP00000447339.1:p.Leu19=
ENST00000548847.1:c.55C>T	ENSP00000449166.1:p.Leu19=
ENST00000549338.5:c.55C>T	ENSP00000447740.1:p.Leu19=
ENST00000550695.1:c.55C>T	ENSP00000449479.1:p.Leu19=
ENST00000551123.5:c.55C>T	ENSP00000449009.1:p.Leu19=
ENST00000551265.5:c.55C>T	ENSP00000448969.1:p.Leu19=
ENST00000551917.5:c.55C>T	ENSP00000447310.1:p.Leu19=
ENST00000552981.5:c.55C>T	ENSP00000448708.1:p.Leu19=
NM_002635.3:c.55C>T	NP_002626.1:p.Leu19=
NM_005888.3:c.55C>T	NP_005879.1:p.Leu19=
NM_213611.2:c.55C>T	NP_998776.1:p.Leu19=
NM_002635.4:c.55C>T MANE Select	NP_002626.1:p.Leu19=
NM_213611.3:c.55C>T	NP_998776.1:p.Leu19=
NM_005888.4:c.55C>T MANE Plus Clinical	NP_005879.1:p.Leu19=