Canonical Allele Identifier: CA2572386006
Gene: GAL HGNC NCBI

Linked Data

dbSNP Id: rs1945842835
gnomAD v4: 11-68685469-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685469G>C , CM000673.2:g.68685469G>C GRCh38
NC_000011.9:g.68452937G>C , CM000673.1:g.68452937G>C GRCh37
NC_000011.8:g.68209513G>C NCBI36
NG_052785.1:g.5995G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.82-125G>C MANE Select ENSP00000265643.3:n.82-125G>C
ENST00000265643.3:c.82-125G>C ENSP00000265643.3:n.82-125G>C
NM_015973.3:c.82-125G>C NP_057057.2:n.82-125G>C
NM_015973.4:c.82-125G>C NP_057057.2:n.82-125G>C
XR_001748281.1:n.230+2372C>G
NM_015973.5:c.82-125G>C MANE Select NP_057057.2:n.82-125G>C
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