Canonical Allele Identifier: CA2655934750

Gene: MN1

Linked Data

• gnomAD v4: 22-27750794-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750794C>A , CM000684.2:g.27750794C>A	GRCh38
NC_000022.10:g.28146782C>A , CM000684.1:g.28146782C>A	GRCh37
NC_000022.9:g.26476782C>A	NCBI36
NG_023258.1:g.55705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.609G>T
ENST00000302326.5:c.*121G>T MANE Select	ENSP00000304956.4:n.*121G>T
ENST00000302326.4:c.*121G>T	ENSP00000304956.4:n.*121G>T
ENST00000424656.1:c.437G>T
ENST00000497225.1:n.440G>T
NM_002430.2:c.*121G>T	NP_002421.3:n.*121G>T
NM_002430.3:c.*121G>T MANE Select	NP_002421.3:n.*121G>T