Canonical Allele Identifier: CA2575660914

Gene: GALC

Linked Data

• dbSNP Id: rs2139925194
• gnomAD v4: 14-87934652-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934652A>G , CM000676.2:g.87934652A>G	GRCh38
NC_000014.8:g.88400996A>G , CM000676.1:g.88400996A>G	GRCh37
NC_000014.7:g.87470749A>G	NCBI36
NG_011853.2:g.63912T>C
NG_011853.3:g.63912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*80T>C MANE Select	ENSP00000261304.2:n.*80T>C
ENST00000261304.6:c.*80T>C	ENSP00000261304.2:n.*80T>C
ENST00000393569.6:c.*80T>C	ENSP00000377199.2:n.*80T>C
ENST00000544807.6:c.1744-653T>C	ENSP00000437513.2:n.1744-653T>C
ENST00000555000.5:c.1279-653T>C	ENSP00000450472.1:n.1279-653T>C
NM_000153.3:c.*80T>C	NP_000144.2:n.*80T>C
NM_001201401.1:c.*80T>C	NP_001188330.1:n.*80T>C
NM_001201402.1:c.*80T>C	NP_001188331.1:n.*80T>C
XM_011536618.1:c.*80T>C	XP_011534920.1:n.*80T>C
XM_011536618.2:c.*80T>C	XP_011534920.1:n.*80T>C
NM_000153.4:c.*80T>C MANE Select	NP_000144.2:n.*80T>C
NM_001201401.2:c.*80T>C	NP_001188330.1:n.*80T>C
NM_001201402.2:c.*80T>C	NP_001188331.1:n.*80T>C