Canonical Allele Identifier: CA16420173
Gene: GAL HGNC NCBI
dbSNP:
694066
gnomAD v2:
11:68452985 G / A
gnomAD v3:
11:68685517 G / A
gnomAD v4:
chr11-68685517-G-A
Joint Max Group AF 0.31376706 (AFR)
Genomes Max Group AF 0.31099259 (AFR)
Exomes Max Group AF 0.31488098 (AFR)
MyVariant.info:
GRCh38 chr11:g.68685517G>A
GRCh37 chr11:g.68452985G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685517G>A , CM000673.2:g.68685517G>A GRCh38
NC_000011.9:g.68452985G>A , CM000673.1:g.68452985G>A GRCh37
NC_000011.8:g.68209561G>A NCBI36
NG_052785.1:g.6043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265643.4:c.82-77G>A MANE Select ENSP00000265643.3:n.82-77G>A
ENST00000265643.3:c.82-77G>A ENSP00000265643.3:n.82-77G>A
NM_015973.3:c.82-77G>A NP_057057.2:n.82-77G>A
NM_015973.4:c.82-77G>A NP_057057.2:n.82-77G>A
XR_001748281.1:n.230+2324C>T
NM_015973.5:c.82-77G>A MANE Select NP_057057.2:n.82-77G>A
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