Canonical Allele Identifier: CA638787307

Gene: MN1

Linked Data

• dbSNP Id: rs1194944852
• gnomAD v2: 22-28146380-T-C
• gnomAD v3: 22-27750392-T-C
• gnomAD v4: 22-27750392-T-C
• MyVariant Identifiers: chr22:g.28146380T>C (hg19) ; chr22:g.27750392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750392T>C , CM000684.2:g.27750392T>C	GRCh38
NC_000022.10:g.28146380T>C , CM000684.1:g.28146380T>C	GRCh37
NC_000022.9:g.26476380T>C	NCBI36
NG_023258.1:g.56107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.1011A>G
ENST00000302326.5:c.*523A>G MANE Select	ENSP00000304956.4:n.*523A>G
ENST00000302326.4:c.*523A>G	ENSP00000304956.4:n.*523A>G
ENST00000424656.1:c.456-164A>G
NM_002430.2:c.*523A>G	NP_002421.3:n.*523A>G
NM_002430.3:c.*523A>G MANE Select	NP_002421.3:n.*523A>G