Canonical Allele Identifier: CA3658783

Gene: GMNN

Linked Data

• ClinVar Variation Id: 1922181
• ClinVar RCV Id: RCV002621537
• dbSNP Id: rs750608483
• ExAC: 6:24777536 G / C
• gnomAD v2: 6-24777536-G-C
• gnomAD v3: 6-24777308-G-C
• gnomAD v4: 6-24777308-G-C
• MyVariant Identifiers: chr6:g.24777536G>C (hg19) ; chr6:g.24777308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24777308G>C , CM000668.2:g.24777308G>C	GRCh38
NC_000006.11:g.24777536G>C , CM000668.1:g.24777536G>C	GRCh37
NC_000006.10:g.24885515G>C	NCBI36
NG_030440.1:g.7378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230056.8:c.51+11G>C MANE Select	ENSP00000230056.3:n.51+11G>C
ENST00000230056.7:c.51+11G>C	ENSP00000230056.3:n.51+11G>C
ENST00000356509.7:c.51+11G>C	ENSP00000348902.3:n.51+11G>C
ENST00000378054.6:c.51+11G>C	ENSP00000367293.2:n.51+11G>C
ENST00000378059.3:c.51+11G>C	ENSP00000367298.3:n.51+11G>C
ENST00000468943.1:n.251G>C
ENST00000476555.5:c.51+11G>C	ENSP00000419584.1:n.51+11G>C
ENST00000620958.4:c.51+11G>C	ENSP00000477506.1:n.51+11G>C
NM_001251989.1:c.51+11G>C	NP_001238918.1:n.51+11G>C
NM_001251990.1:c.51+11G>C	NP_001238919.1:n.51+11G>C
NM_001251991.1:c.51+11G>C	NP_001238920.1:n.51+11G>C
NM_015895.4:c.51+11G>C	NP_056979.1:n.51+11G>C
XM_005249159.1:c.51+11G>C	XP_005249216.1:n.51+11G>C
XM_005249159.2:c.51+11G>C	XP_005249216.1:n.51+11G>C
NM_015895.5:c.51+11G>C MANE Select	NP_056979.1:n.51+11G>C
NM_001251989.2:c.51+11G>C	NP_001238918.1:n.51+11G>C
NM_001251990.2:c.51+11G>C	NP_001238919.1:n.51+11G>C