Canonical Allele Identifier: CA10165943
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs764921542
ExAC: 22:28146982 C / A
gnomAD v2: 22-28146982-C-A
gnomAD v4: 22-27750994-C-A
MyVariant Identifiers: chr22:g.28146982C>A (hg19) chr22:g.27750994C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750994C>A , CM000684.2:g.27750994C>A GRCh38
NC_000022.10:g.28146982C>A , CM000684.1:g.28146982C>A GRCh37
NC_000022.9:g.26476982C>A NCBI36
NG_023258.1:g.55505G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.409G>T
ENST00000302326.5:c.3884G>T MANE Select ENSP00000304956.4:p.Arg1295Leu
ENST00000302326.4:c.3884G>T ENSP00000304956.4:p.Arg1295Leu
ENST00000424656.1:c.237G>T
ENST00000497225.1:n.240G>T
NM_002430.2:c.3884G>T NP_002421.3:p.Arg1295Leu
NM_002430.3:c.3884G>T MANE Select NP_002421.3:p.Arg1295Leu
Search 100 bp 5'
Search 100 bp 3'