Canonical Allele Identifier: CA513188083

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083969042
• gnomAD v4: 22-19176864-G-A
• MyVariant Identifiers: chr22:g.19164377G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176864G>A , CM000684.2:g.19176864G>A	GRCh38
NC_000022.10:g.19164377G>A , CM000684.1:g.19164377G>A	GRCh37
NC_000022.9:g.17544377G>A	NCBI36
NG_033863.1:g.7000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.613C>T MANE Select	ENSP00000215882.5:p.Leu205=
ENST00000215882.9:c.613C>T	ENSP00000215882.5:p.Leu205=
ENST00000451283.5:c.304C>T	ENSP00000401480.1:p.Leu102=
ENST00000461267.1:n.759C>T
ENST00000470922.5:n.755C>T
NM_001256534.1:c.634C>T	NP_001243463.1:p.Leu212=
NM_001287387.1:c.304C>T	NP_001274316.1:p.Leu102=
NM_005984.4:c.613C>T	NP_005975.1:p.Leu205=
NR_046298.2:n.664C>T
NM_005984.5:c.613C>T MANE Select	NP_005975.1:p.Leu205=
NM_001256534.2:c.634C>T	NP_001243463.1:p.Leu212=
NM_001287387.2:c.304C>T	NP_001274316.1:p.Leu102=
NR_046298.3:n.537C>T