Canonical Allele Identifier: CA371624943

Gene: SLC25A32

Linked Data

• gnomAD v4: 8-103403193-T-G
• MyVariant Identifiers: chr8:g.104415421T>G (hg19) ; chr8:g.103403193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.103403193T>G , CM000670.2:g.103403193T>G	GRCh38
NC_000008.10:g.104415421T>G , CM000670.1:g.104415421T>G	GRCh37
NC_000008.9:g.104484597T>G	NCBI36
NG_047200.1:g.17143A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707124.1:c.592A>C	ENSP00000516752.1:p.Lys198Gln
ENST00000297578.9:c.523A>C MANE Select	ENSP00000297578.4:p.Lys175Gln
ENST00000649416.1:c.370A>C	ENSP00000496817.1:p.Lys124Gln
ENST00000297578.8:c.523A>C	ENSP00000297578.4:p.Lys175Gln
ENST00000521645.5:c.392-1139A>C	ENSP00000430989.1:n.392-1139A>C
ENST00000523256.6:c.306-1139A>C	ENSP00000427737.1:n.306-1139A>C
ENST00000523866.1:c.*65A>C	ENSP00000430371.1:n.*65A>C
NM_030780.4:c.523A>C	NP_110407.2:p.Lys175Gln
NR_102337.1:n.835A>C
NR_102338.1:n.1030A>C
NM_030780.5:c.523A>C MANE Select	NP_110407.2:p.Lys175Gln
NR_102337.2:n.607A>C
NR_102338.2:n.802A>C