Canonical Allele Identifier: CA2514640323

Gene: MN1

Linked Data

• gnomAD v4: 22-27750796-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750796C>A , CM000684.2:g.27750796C>A	GRCh38
NC_000022.10:g.28146784C>A , CM000684.1:g.28146784C>A	GRCh37
NC_000022.9:g.26476784C>A	NCBI36
NG_023258.1:g.55703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.607G>T
ENST00000302326.5:c.*119G>T MANE Select	ENSP00000304956.4:n.*119G>T
ENST00000302326.4:c.*119G>T	ENSP00000304956.4:n.*119G>T
ENST00000424656.1:c.435G>T
ENST00000497225.1:n.438G>T
NM_002430.2:c.*119G>T	NP_002421.3:n.*119G>T
NM_002430.3:c.*119G>T MANE Select	NP_002421.3:n.*119G>T