Canonical Allele Identifier: CA410637148

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164389C>A (hg19) ; chr22:g.19176876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176876C>A , CM000684.2:g.19176876C>A	GRCh38
NC_000022.10:g.19164389C>A , CM000684.1:g.19164389C>A	GRCh37
NC_000022.9:g.17544389C>A	NCBI36
NG_033863.1:g.6988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.601G>T MANE Select	ENSP00000215882.5:p.Val201Phe
ENST00000215882.9:c.601G>T	ENSP00000215882.5:p.Val201Phe
ENST00000451283.5:c.292G>T	ENSP00000401480.1:p.Val98Phe
ENST00000461267.1:n.747G>T
ENST00000470922.5:n.743G>T
NM_001256534.1:c.622G>T	NP_001243463.1:p.Val208Phe
NM_001287387.1:c.292G>T	NP_001274316.1:p.Val98Phe
NM_005984.4:c.601G>T	NP_005975.1:p.Val201Phe
NR_046298.2:n.652G>T
NM_005984.5:c.601G>T MANE Select	NP_005975.1:p.Val201Phe
NM_001256534.2:c.622G>T	NP_001243463.1:p.Val208Phe
NM_001287387.2:c.292G>T	NP_001274316.1:p.Val98Phe
NR_046298.3:n.525G>T