Canonical Allele Identifier: CA410639089

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19165293C>T (hg19) ; chr22:g.19177780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177780C>T , CM000684.2:g.19177780C>T	GRCh38
NC_000022.10:g.19165293C>T , CM000684.1:g.19165293C>T	GRCh37
NC_000022.9:g.17545293C>T	NCBI36
NG_033805.1:g.118937G>A
NG_033863.1:g.6084G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.388G>A MANE Select	ENSP00000215882.5:p.Gly130Ser
ENST00000215882.9:c.388G>A	ENSP00000215882.5:p.Gly130Ser
ENST00000451283.5:c.79G>A	ENSP00000401480.1:p.Gly27Ser
ENST00000461267.1:n.534G>A
ENST00000470922.5:n.530G>A
NM_001256534.1:c.409G>A	NP_001243463.1:p.Gly137Ser
NM_001287387.1:c.79G>A	NP_001274316.1:p.Gly27Ser
NM_005984.4:c.388G>A	NP_005975.1:p.Gly130Ser
NR_046298.2:n.492+162G>A
NM_005984.5:c.388G>A MANE Select	NP_005975.1:p.Gly130Ser
NM_001256534.2:c.409G>A	NP_001243463.1:p.Gly137Ser
NM_001287387.2:c.79G>A	NP_001274316.1:p.Gly27Ser
NR_046298.3:n.365+162G>A