Canonical Allele Identifier: CA362987539
Gene: GMNN HGNC NCBI

Linked Data

gnomAD v4: 6-24777251-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24777251A>G , CM000668.2:g.24777251A>G GRCh38
NC_000006.11:g.24777479A>G , CM000668.1:g.24777479A>G GRCh37
NC_000006.10:g.24885458A>G NCBI36
NG_030440.1:g.7321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230056.8:c.5A>G MANE Select ENSP00000230056.3:p.Asn2Ser
ENST00000230056.7:c.5A>G ENSP00000230056.3:p.Asn2Ser
ENST00000356509.7:c.5A>G ENSP00000348902.3:p.Asn2Ser
ENST00000378054.6:c.5A>G ENSP00000367293.2:p.Asn2Ser
ENST00000378059.3:c.5A>G ENSP00000367298.3:p.Asn2Ser
ENST00000468943.1:n.194A>G
ENST00000476555.5:c.5A>G ENSP00000419584.1:p.Asn2Ser
ENST00000620958.4:c.5A>G ENSP00000477506.1:p.Asn2Ser
NM_001251989.1:c.5A>G NP_001238918.1:p.Asn2Ser
NM_001251990.1:c.5A>G NP_001238919.1:p.Asn2Ser
NM_001251991.1:c.5A>G NP_001238920.1:p.Asn2Ser
NM_015895.4:c.5A>G NP_056979.1:p.Asn2Ser
XM_005249159.1:c.5A>G XP_005249216.1:p.Asn2Ser
XM_005249159.2:c.5A>G XP_005249216.1:p.Asn2Ser
NM_015895.5:c.5A>G MANE Select NP_056979.1:p.Asn2Ser
NM_001251989.2:c.5A>G NP_001238918.1:p.Asn2Ser
NM_001251990.2:c.5A>G NP_001238919.1:p.Asn2Ser