Canonical Allele Identifier: CA638787302

Gene: MN1

Linked Data

• dbSNP Id: rs1246025946
• gnomAD v2: 22-28146374-C-A
• gnomAD v3: 22-27750386-C-A
• gnomAD v4: 22-27750386-C-A
• MyVariant Identifiers: chr22:g.28146374C>A (hg19) ; chr22:g.27750386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750386C>A , CM000684.2:g.27750386C>A	GRCh38
NC_000022.10:g.28146374C>A , CM000684.1:g.28146374C>A	GRCh37
NC_000022.9:g.26476374C>A	NCBI36
NG_023258.1:g.56113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.1017G>T
ENST00000302326.5:c.*529G>T MANE Select	ENSP00000304956.4:n.*529G>T
ENST00000302326.4:c.*529G>T	ENSP00000304956.4:n.*529G>T
ENST00000424656.1:c.456-158G>T
NM_002430.2:c.*529G>T	NP_002421.3:n.*529G>T
NM_002430.3:c.*529G>T MANE Select	NP_002421.3:n.*529G>T