Canonical Allele Identifier: CA1024815592
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1178179235
gnomAD v3: 22-27750795-T-G
gnomAD v4: 22-27750795-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750795T>G , CM000684.2:g.27750795T>G GRCh38
NC_000022.10:g.28146783T>G , CM000684.1:g.28146783T>G GRCh37
NC_000022.9:g.26476783T>G NCBI36
NG_023258.1:g.55704A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.608A>C
ENST00000302326.5:c.*120A>C MANE Select ENSP00000304956.4:n.*120A>C
ENST00000302326.4:c.*120A>C ENSP00000304956.4:n.*120A>C
ENST00000424656.1:c.436A>C
ENST00000497225.1:n.439A>C
NM_002430.2:c.*120A>C NP_002421.3:n.*120A>C
NM_002430.3:c.*120A>C MANE Select NP_002421.3:n.*120A>C
Search 100 bp 5'
Search 100 bp 3'