Canonical Allele Identifier: CA2614727702
Gene: GAL HGNC NCBI

Linked Data

gnomAD v4: 11-68685527-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685527G>A , CM000673.2:g.68685527G>A GRCh38
NC_000011.9:g.68452995G>A , CM000673.1:g.68452995G>A GRCh37
NC_000011.8:g.68209571G>A NCBI36
NG_052785.1:g.6053G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.82-67G>A MANE Select ENSP00000265643.3:n.82-67G>A
ENST00000265643.3:c.82-67G>A ENSP00000265643.3:n.82-67G>A
NM_015973.3:c.82-67G>A NP_057057.2:n.82-67G>A
NM_015973.4:c.82-67G>A NP_057057.2:n.82-67G>A
XR_001748281.1:n.230+2314C>T
NM_015973.5:c.82-67G>A MANE Select NP_057057.2:n.82-67G>A
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