Canonical Allele Identifier: CA2574902306
Gene: GAL HGNC NCBI

Linked Data

gnomAD v4: 11-68685553-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685553A>G , CM000673.2:g.68685553A>G GRCh38
NC_000011.9:g.68453021A>G , CM000673.1:g.68453021A>G GRCh37
NC_000011.8:g.68209597A>G NCBI36
NG_052785.1:g.6079A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.82-41A>G MANE Select ENSP00000265643.3:n.82-41A>G
ENST00000265643.3:c.82-41A>G ENSP00000265643.3:n.82-41A>G
NM_015973.3:c.82-41A>G NP_057057.2:n.82-41A>G
NM_015973.4:c.82-41A>G NP_057057.2:n.82-41A>G
XR_001748281.1:n.230+2288T>C
NM_015973.5:c.82-41A>G MANE Select NP_057057.2:n.82-41A>G
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