Canonical Allele Identifier: CA10635741

Gene: SLC25A22

Linked Data

• ClinVar Variation Id: 306249
• ClinVar RCV Id: RCV000388092
• dbSNP Id: rs375467519
• gnomAD v2: 11-791222-C-G
• gnomAD v3: 11-791222-C-G
• gnomAD v4: 11-791222-C-G
• MyVariant Identifiers: chr11:g.791222C>G (hg19) ; chr11:g.791222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.791222C>G , CM000673.2:g.791222C>G	GRCh38
NC_000011.9:g.791222C>G , CM000673.1:g.791222C>G	GRCh37
NC_000011.8:g.781222C>G	NCBI36
NG_023407.1:g.12048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628067.3:c.*693G>C MANE Select	ENSP00000486058.1:n.*693G>C
ENST00000320230.9:c.*693G>C	ENSP00000322020.5:n.*693G>C
ENST00000628067.2:c.*693G>C	ENSP00000486058.1:n.*693G>C
NM_001191060.1:c.*693G>C	NP_001177989.1:n.*693G>C
NM_001191061.1:c.*693G>C	NP_001177990.1:n.*693G>C
NM_024698.5:c.*693G>C	NP_078974.1:n.*693G>C
XM_011520369.1:c.*693G>C	XP_011518671.1:n.*693G>C
XM_011520370.1:c.*693G>C	XP_011518672.1:n.*693G>C
XM_011520371.1:c.*693G>C	XP_011518673.1:n.*693G>C
XM_011520370.2:c.*693G>C	XP_011518672.1:n.*693G>C
XM_011520371.2:c.*693G>C	XP_011518673.1:n.*693G>C
XM_024448687.1:c.*693G>C	XP_024304455.1:n.*693G>C
XM_024448688.1:c.*693G>C	XP_024304456.1:n.*693G>C
XM_024448689.1:c.*693G>C	XP_024304457.1:n.*693G>C
NM_001191061.2:c.*693G>C MANE Select	NP_001177990.1:n.*693G>C
NM_024698.6:c.*693G>C	NP_078974.1:n.*693G>C
NM_001191060.2:c.*693G>C	NP_001177989.1:n.*693G>C