Canonical Allele Identifier: CA321344653

Gene: SLC25A1

Linked Data

• dbSNP Id: rs371530845
• gnomAD v4: 22-19176865-G-A
• MyVariant Identifiers: chr22:g.19164378G>A (hg19) ; chr22:g.19176865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176865G>A , CM000684.2:g.19176865G>A	GRCh38
NC_000022.10:g.19164378G>A , CM000684.1:g.19164378G>A	GRCh37
NC_000022.9:g.17544378G>A	NCBI36
NG_033863.1:g.6999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.612C>T MANE Select	ENSP00000215882.5:p.Ser204=
ENST00000215882.9:c.612C>T	ENSP00000215882.5:p.Ser204=
ENST00000451283.5:c.303C>T	ENSP00000401480.1:p.Ser101=
ENST00000461267.1:n.758C>T
ENST00000470922.5:n.754C>T
NM_001256534.1:c.633C>T	NP_001243463.1:p.Ser211=
NM_001287387.1:c.303C>T	NP_001274316.1:p.Ser101=
NM_005984.4:c.612C>T	NP_005975.1:p.Ser204=
NR_046298.2:n.663C>T
NM_005984.5:c.612C>T MANE Select	NP_005975.1:p.Ser204=
NM_001256534.2:c.633C>T	NP_001243463.1:p.Ser211=
NM_001287387.2:c.303C>T	NP_001274316.1:p.Ser101=
NR_046298.3:n.536C>T