Canonical Allele Identifier: CA410636080

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176606-G-A
• MyVariant Identifiers: chr22:g.19164119G>A (hg19) ; chr22:g.19176606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176606G>A , CM000684.2:g.19176606G>A	GRCh38
NC_000022.10:g.19164119G>A , CM000684.1:g.19164119G>A	GRCh37
NC_000022.9:g.17544119G>A	NCBI36
NG_033863.1:g.7258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.719C>T MANE Select	ENSP00000215882.5:p.Pro240Leu
ENST00000215882.9:c.719C>T	ENSP00000215882.5:p.Pro240Leu
ENST00000451283.5:c.410C>T	ENSP00000401480.1:p.Pro137Leu
ENST00000470922.5:n.861C>T
NM_001256534.1:c.740C>T	NP_001243463.1:p.Pro247Leu
NM_001287387.1:c.410C>T	NP_001274316.1:p.Pro137Leu
NM_005984.4:c.719C>T	NP_005975.1:p.Pro240Leu
NR_046298.2:n.770C>T
NM_005984.5:c.719C>T MANE Select	NP_005975.1:p.Pro240Leu
NM_001256534.2:c.740C>T	NP_001243463.1:p.Pro247Leu
NM_001287387.2:c.410C>T	NP_001274316.1:p.Pro137Leu
NR_046298.3:n.643C>T