Canonical Allele Identifier: CA6959595

Gene: SLC25A15

Linked Data

• ClinVar Variation Id: 509277
• ClinVar RCV Id: RCV000602038 ; RCV001069032 ; RCV003905601
• dbSNP Id: rs200219313
• ExAC: 13:41367423 G / C
• gnomAD v2: 13-41367423-G-C
• gnomAD v3: 13-40793287-G-C
• gnomAD v4: 13-40793287-G-C
• MyVariant Identifiers: chr13:g.41367423G>C (hg19) ; chr13:g.40793287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40793287G>C , CM000675.2:g.40793287G>C	GRCh38
NC_000013.10:g.41367423G>C , CM000675.1:g.41367423G>C	GRCh37
NC_000013.9:g.40265423G>C	NCBI36
NG_012248.1:g.8877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.55+6G>C	ENSP00000516711.1:n.55+6G>C
ENST00000338625.9:c.55+6G>C MANE Select	ENSP00000342267.4:n.55+6G>C
ENST00000338625.8:c.55+6G>C	ENSP00000342267.4:n.55+6G>C
ENST00000417731.5:c.55+6G>C	ENSP00000415826.1:n.55+6G>C
ENST00000470509.1:c.55+6G>C	ENSP00000431429.1:n.55+6G>C
ENST00000478827.1:n.376+6G>C
NM_014252.3:c.55+6G>C	NP_055067.1:n.55+6G>C
NM_014252.4:c.55+6G>C MANE Select	NP_055067.1:n.55+6G>C