Canonical Allele Identifier: CA638787310

Gene: MN1

Linked Data

• dbSNP Id: rs1387859721
• gnomAD v2: 22-28146391-T-C
• gnomAD v3: 22-27750403-T-C
• gnomAD v4: 22-27750403-T-C
• MyVariant Identifiers: chr22:g.28146391T>C (hg19) ; chr22:g.27750403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750403T>C , CM000684.2:g.27750403T>C	GRCh38
NC_000022.10:g.28146391T>C , CM000684.1:g.28146391T>C	GRCh37
NC_000022.9:g.26476391T>C	NCBI36
NG_023258.1:g.56096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.1000A>G
ENST00000302326.5:c.*512A>G MANE Select	ENSP00000304956.4:n.*512A>G
ENST00000302326.4:c.*512A>G	ENSP00000304956.4:n.*512A>G
ENST00000424656.1:c.456-175A>G
NM_002430.2:c.*512A>G	NP_002421.3:n.*512A>G
NM_002430.3:c.*512A>G MANE Select	NP_002421.3:n.*512A>G