Canonical Allele Identifier: CA136174846

Gene: GMNN

Linked Data

• dbSNP Id: rs560489336
• gnomAD v2: 6-24777514-G-C
• gnomAD v3: 6-24777286-G-C
• gnomAD v4: 6-24777286-G-C
• MyVariant Identifiers: chr6:g.24777514G>C (hg19) ; chr6:g.24777286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24777286G>C , CM000668.2:g.24777286G>C	GRCh38
NC_000006.11:g.24777514G>C , CM000668.1:g.24777514G>C	GRCh37
NC_000006.10:g.24885493G>C	NCBI36
NG_030440.1:g.7356G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230056.8:c.40G>C MANE Select	ENSP00000230056.3:p.Glu14Gln
ENST00000230056.7:c.40G>C	ENSP00000230056.3:p.Glu14Gln
ENST00000356509.7:c.40G>C	ENSP00000348902.3:p.Glu14Gln
ENST00000378054.6:c.40G>C	ENSP00000367293.2:p.Glu14Gln
ENST00000378059.3:c.40G>C	ENSP00000367298.3:p.Glu14Gln
ENST00000468943.1:n.229G>C
ENST00000476555.5:c.40G>C	ENSP00000419584.1:p.Glu14Gln
ENST00000620958.4:c.40G>C	ENSP00000477506.1:p.Glu14Gln
NM_001251989.1:c.40G>C	NP_001238918.1:p.Glu14Gln
NM_001251990.1:c.40G>C	NP_001238919.1:p.Glu14Gln
NM_001251991.1:c.40G>C	NP_001238920.1:p.Glu14Gln
NM_015895.4:c.40G>C	NP_056979.1:p.Glu14Gln
XM_005249159.1:c.40G>C	XP_005249216.1:p.Glu14Gln
XM_005249159.2:c.40G>C	XP_005249216.1:p.Glu14Gln
NM_015895.5:c.40G>C MANE Select	NP_056979.1:p.Glu14Gln
NM_001251989.2:c.40G>C	NP_001238918.1:p.Glu14Gln
NM_001251990.2:c.40G>C	NP_001238919.1:p.Glu14Gln