Canonical Allele Identifier: CA2625958130
Gene: GALC HGNC NCBI

Linked Data

gnomAD v4: 14-87933202-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933202A>G , CM000676.2:g.87933202A>G GRCh38
NC_000014.8:g.88399546A>G , CM000676.1:g.88399546A>G GRCh37
NC_000014.7:g.87469299A>G NCBI36
NG_011853.2:g.65362T>C
NG_011853.3:g.65362T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1530T>C MANE Select ENSP00000261304.2:n.*1530T>C
ENST00000261304.6:c.*1530T>C ENSP00000261304.2:n.*1530T>C
ENST00000555000.5:c.*74+697T>C ENSP00000450472.1:n.*74+697T>C
NM_000153.3:c.*1530T>C NP_000144.2:n.*1530T>C
NM_001201401.1:c.*1530T>C NP_001188330.1:n.*1530T>C
NM_001201402.1:c.*1530T>C NP_001188331.1:n.*1530T>C
XM_011536618.1:c.*1530T>C XP_011534920.1:n.*1530T>C
XM_011536618.2:c.*1530T>C XP_011534920.1:n.*1530T>C
NM_000153.4:c.*1530T>C MANE Select NP_000144.2:n.*1530T>C
NM_001201401.2:c.*1530T>C NP_001188330.1:n.*1530T>C
NM_001201402.2:c.*1530T>C NP_001188331.1:n.*1530T>C
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