Canonical Allele Identifier: CA475195759
Gene: GAL HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68453106G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685638G>T , CM000673.2:g.68685638G>T GRCh38
NC_000011.9:g.68453106G>T , CM000673.1:g.68453106G>T GRCh37
NC_000011.8:g.68209682G>T NCBI36
NG_052785.1:g.6164G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.126G>T MANE Select ENSP00000265643.3:p.Leu42=
ENST00000265643.3:c.126G>T ENSP00000265643.3:p.Leu42=
NM_015973.3:c.126G>T NP_057057.2:p.Leu42=
NM_015973.4:c.126G>T NP_057057.2:p.Leu42=
XR_001748281.1:n.230+2203C>A
NM_015973.5:c.126G>T MANE Select NP_057057.2:p.Leu42=
Search 100 bp 5'
Search 100 bp 3'