Canonical Allele Identifier: CA411033641

Gene: MN1

Linked Data

• gnomAD v4: 22-27751058-G-A
• MyVariant Identifiers: chr22:g.28147046G>A (hg19) ; chr22:g.27751058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27751058G>A , CM000684.2:g.27751058G>A	GRCh38
NC_000022.10:g.28147046G>A , CM000684.1:g.28147046G>A	GRCh37
NC_000022.9:g.26477046G>A	NCBI36
NG_023258.1:g.55441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703102.1:n.345C>T
ENST00000302326.5:c.3820C>T MANE Select	ENSP00000304956.4:p.Pro1274Ser
ENST00000302326.4:c.3820C>T	ENSP00000304956.4:p.Pro1274Ser
ENST00000424656.1:c.173C>T
ENST00000497225.1:n.176C>T
NM_002430.2:c.3820C>T	NP_002421.3:p.Pro1274Ser
NM_002430.3:c.3820C>T MANE Select	NP_002421.3:p.Pro1274Ser