Canonical Allele Identifier: CA411032681

Gene: MN1

Linked Data

• MyVariant Identifiers: chr22:g.28146904C>A (hg19) ; chr22:g.27750916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750916C>A , CM000684.2:g.27750916C>A	GRCh38
NC_000022.10:g.28146904C>A , CM000684.1:g.28146904C>A	GRCh37
NC_000022.9:g.26476904C>A	NCBI36
NG_023258.1:g.55583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.487G>T
ENST00000302326.5:c.3962G>T MANE Select	ENSP00000304956.4:p.Ter1321Leu
ENST00000302326.4:c.3962G>T	ENSP00000304956.4:p.Ter1321Leu
ENST00000424656.1:c.315G>T
ENST00000497225.1:n.318G>T
NM_002430.2:c.3962G>T	NP_002421.3:p.Ter1321Leu
NM_002430.3:c.3962G>T MANE Select	NP_002421.3:p.Ter1321Leu