Canonical Allele Identifier: CA250418
Gene: GMNN HGNC NCBI

Linked Data

ClinVar Variation Id: 203999
dbSNP Id: rs864309486
gnomAD v4: 6-24777262-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24777262A>T , CM000668.2:g.24777262A>T GRCh38
NC_000006.11:g.24777490A>T , CM000668.1:g.24777490A>T GRCh37
NC_000006.10:g.24885469A>T NCBI36
NG_030440.1:g.7332A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230056.8:c.16A>T MANE Select ENSP00000230056.3:p.Lys6Ter
ENST00000230056.7:c.16A>T ENSP00000230056.3:p.Lys6Ter
ENST00000356509.7:c.16A>T ENSP00000348902.3:p.Lys6Ter
ENST00000378054.6:c.16A>T ENSP00000367293.2:p.Lys6Ter
ENST00000378059.3:c.16A>T ENSP00000367298.3:p.Lys6Ter
ENST00000468943.1:n.205A>T
ENST00000476555.5:c.16A>T ENSP00000419584.1:p.Lys6Ter
ENST00000620958.4:c.16A>T ENSP00000477506.1:p.Lys6Ter
NM_001251989.1:c.16A>T NP_001238918.1:p.Lys6Ter
NM_001251990.1:c.16A>T NP_001238919.1:p.Lys6Ter
NM_001251991.1:c.16A>T NP_001238920.1:p.Lys6Ter
NM_015895.4:c.16A>T NP_056979.1:p.Lys6Ter
XM_005249159.1:c.16A>T XP_005249216.1:p.Lys6Ter
XM_005249159.2:c.16A>T XP_005249216.1:p.Lys6Ter
NM_015895.5:c.16A>T MANE Select NP_056979.1:p.Lys6Ter
NM_001251989.2:c.16A>T NP_001238918.1:p.Lys6Ter
NM_001251990.2:c.16A>T NP_001238919.1:p.Lys6Ter