Canonical Allele Identifier: CA10645173

Gene: GALC

Linked Data

• ClinVar Variation Id: 314729
• ClinVar RCV Id: RCV000358158
• dbSNP Id: rs405567
• gnomAD v2: 14-88399623-T-C
• gnomAD v3: 14-87933279-T-C
• gnomAD v4: 14-87933279-T-C
• MyVariant Identifiers: chr14:g.88399623T>C (hg19) ; chr14:g.87933279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933279T>C , CM000676.2:g.87933279T>C	GRCh38
NC_000014.8:g.88399623T>C , CM000676.1:g.88399623T>C	GRCh37
NC_000014.7:g.87469376T>C	NCBI36
NG_011853.2:g.65285A>G
NG_011853.3:g.65285A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1453A>G MANE Select	ENSP00000261304.2:n.*1453A>G
ENST00000261304.6:c.*1453A>G	ENSP00000261304.2:n.*1453A>G
ENST00000555000.5:c.*74+620A>G	ENSP00000450472.1:n.*74+620A>G
NM_000153.3:c.*1453A>G	NP_000144.2:n.*1453A>G
NM_001201401.1:c.*1453A>G	NP_001188330.1:n.*1453A>G
NM_001201402.1:c.*1453A>G	NP_001188331.1:n.*1453A>G
XM_011536618.1:c.*1453A>G	XP_011534920.1:n.*1453A>G
XM_011536618.2:c.*1453A>G	XP_011534920.1:n.*1453A>G
NM_000153.4:c.*1453A>G MANE Select	NP_000144.2:n.*1453A>G
NM_001201401.2:c.*1453A>G	NP_001188330.1:n.*1453A>G
NM_001201402.2:c.*1453A>G	NP_001188331.1:n.*1453A>G