Canonical Allele Identifier: CA411032927
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1444862127
gnomAD v2: 22-28146949-G-A
MyVariant Identifiers: chr22:g.28146949G>A (hg19) chr22:g.27750961G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750961G>A , CM000684.2:g.27750961G>A GRCh38
NC_000022.10:g.28146949G>A , CM000684.1:g.28146949G>A GRCh37
NC_000022.9:g.26476949G>A NCBI36
NG_023258.1:g.55538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.442C>T
ENST00000302326.5:c.3917C>T MANE Select ENSP00000304956.4:p.Ser1306Phe
ENST00000302326.4:c.3917C>T ENSP00000304956.4:p.Ser1306Phe
ENST00000424656.1:c.270C>T
ENST00000497225.1:n.273C>T
NM_002430.2:c.3917C>T NP_002421.3:p.Ser1306Phe
NM_002430.3:c.3917C>T MANE Select NP_002421.3:p.Ser1306Phe
Search 100 bp 5'
Search 100 bp 3'