Canonical Allele Identifier: CA279953

Gene: SLC25A42

Linked Data

• ClinVar Variation Id: 219191
• ClinVar RCV Id: RCV000203566 ; RCV000412490 ; RCV000984915
• dbSNP Id: rs864321624
• MyVariant Identifiers: chr19:g.19221599A>G (hg19) ; chr19:g.19110790A>G (hg38)
• PubMed: PMID:26541337

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19110790A>G , CM000681.2:g.19110790A>G	GRCh38
NC_000019.9:g.19221599A>G , CM000681.1:g.19221599A>G	GRCh37
NC_000019.8:g.19082599A>G	NCBI36
NG_050576.1:g.51830A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318596.8:c.871A>G MANE Select	ENSP00000326693.6:p.Asn291Asp
ENST00000318596.7:c.871A>G	ENSP00000326693.6:p.Asn291Asp
NM_178526.4:c.871A>G	NP_848621.2:p.Asn291Asp
XM_005259861.2:c.871A>G	XP_005259918.1:p.Asn291Asp
XM_011527936.1:c.871A>G	XP_011526238.1:p.Asn291Asp
XM_011527937.1:c.871A>G	XP_011526239.1:p.Asn291Asp
NM_001321544.1:c.871A>G	NP_001308473.1:p.Asn291Asp
XM_005259861.3:c.871A>G	XP_005259918.1:p.Asn291Asp
XM_011527937.2:c.871A>G	XP_011526239.1:p.Asn291Asp
XM_017026670.2:c.1063A>G	XP_016882159.1:p.Asn355Asp
NM_001321544.2:c.871A>G	NP_001308473.1:p.Asn291Asp
NM_178526.5:c.871A>G MANE Select	NP_848621.2:p.Asn291Asp