Canonical Allele Identifier: CA2655934289

Gene: MN1

Linked Data

• gnomAD v4: 22-27750422-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750422C>A , CM000684.2:g.27750422C>A	GRCh38
NC_000022.10:g.28146410C>A , CM000684.1:g.28146410C>A	GRCh37
NC_000022.9:g.26476410C>A	NCBI36
NG_023258.1:g.56077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.981G>T
ENST00000302326.5:c.*493G>T MANE Select	ENSP00000304956.4:n.*493G>T
ENST00000302326.4:c.*493G>T	ENSP00000304956.4:n.*493G>T
ENST00000424656.1:c.456-194G>T
NM_002430.2:c.*493G>T	NP_002421.3:n.*493G>T
NM_002430.3:c.*493G>T MANE Select	NP_002421.3:n.*493G>T