Canonical Allele Identifier: CA2655934264

Gene: MN1

Linked Data

• gnomAD v4: 22-27750377-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750377A>G , CM000684.2:g.27750377A>G	GRCh38
NC_000022.10:g.28146365A>G , CM000684.1:g.28146365A>G	GRCh37
NC_000022.9:g.26476365A>G	NCBI36
NG_023258.1:g.56122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.1026T>C
ENST00000302326.5:c.*538T>C MANE Select	ENSP00000304956.4:n.*538T>C
ENST00000302326.4:c.*538T>C	ENSP00000304956.4:n.*538T>C
ENST00000424656.1:c.456-149T>C
NM_002430.2:c.*538T>C	NP_002421.3:n.*538T>C
NM_002430.3:c.*538T>C MANE Select	NP_002421.3:n.*538T>C