Canonical Allele Identifier: CA599974211
Gene: GAL HGNC NCBI

Linked Data

dbSNP Id: rs1426927876
gnomAD v2: 11-68452928-T-C
gnomAD v3: 11-68685460-T-C
gnomAD v4: 11-68685460-T-C
MyVariant Identifiers: chr11:g.68452928T>C (hg19) chr11:g.68685460T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685460T>C , CM000673.2:g.68685460T>C GRCh38
NC_000011.9:g.68452928T>C , CM000673.1:g.68452928T>C GRCh37
NC_000011.8:g.68209504T>C NCBI36
NG_052785.1:g.5986T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.82-134T>C MANE Select ENSP00000265643.3:n.82-134T>C
ENST00000265643.3:c.82-134T>C ENSP00000265643.3:n.82-134T>C
NM_015973.3:c.82-134T>C NP_057057.2:n.82-134T>C
NM_015973.4:c.82-134T>C NP_057057.2:n.82-134T>C
XR_001748281.1:n.230+2381A>G
NM_015973.5:c.82-134T>C MANE Select NP_057057.2:n.82-134T>C
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