Canonical Allele Identifier: CA410637309

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164427A>G (hg19) ; chr22:g.19176914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176914A>G , CM000684.2:g.19176914A>G	GRCh38
NC_000022.10:g.19164427A>G , CM000684.1:g.19164427A>G	GRCh37
NC_000022.9:g.17544427A>G	NCBI36
NG_033863.1:g.6950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.563T>C MANE Select	ENSP00000215882.5:p.Val188Ala
ENST00000215882.9:c.563T>C	ENSP00000215882.5:p.Val188Ala
ENST00000451283.5:c.254T>C	ENSP00000401480.1:p.Val85Ala
ENST00000461267.1:n.709T>C
ENST00000470922.5:n.705T>C
NM_001256534.1:c.584T>C	NP_001243463.1:p.Val195Ala
NM_001287387.1:c.254T>C	NP_001274316.1:p.Val85Ala
NM_005984.4:c.563T>C	NP_005975.1:p.Val188Ala
NR_046298.2:n.614T>C
NM_005984.5:c.563T>C MANE Select	NP_005975.1:p.Val188Ala
NM_001256534.2:c.584T>C	NP_001243463.1:p.Val195Ala
NM_001287387.2:c.254T>C	NP_001274316.1:p.Val85Ala
NR_046298.3:n.487T>C