Canonical Allele Identifier: CA410633314

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163652C>G (hg19) ; chr22:g.19176139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176139C>G , CM000684.2:g.19176139C>G	GRCh38
NC_000022.10:g.19163652C>G , CM000684.1:g.19163652C>G	GRCh37
NC_000022.9:g.17543652C>G	NCBI36
NG_033863.1:g.7725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.927G>C MANE Select	ENSP00000215882.5:p.Lys309Asn
ENST00000215882.9:c.927G>C	ENSP00000215882.5:p.Lys309Asn
ENST00000451283.5:c.618G>C	ENSP00000401480.1:p.Lys206Asn
ENST00000470922.5:n.1069G>C
NM_001256534.1:c.948G>C	NP_001243463.1:p.Lys316Asn
NM_001287387.1:c.618G>C	NP_001274316.1:p.Lys206Asn
NM_005984.4:c.927G>C	NP_005975.1:p.Lys309Asn
NR_046298.2:n.978G>C
NM_005984.5:c.927G>C MANE Select	NP_005975.1:p.Lys309Asn
NM_001256534.2:c.948G>C	NP_001243463.1:p.Lys316Asn
NM_001287387.2:c.618G>C	NP_001274316.1:p.Lys206Asn
NR_046298.3:n.851G>C