Canonical Allele Identifier: CA2625978550

Gene: GALC

Linked Data

• gnomAD v4: 14-87939871-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939871A>G , CM000676.2:g.87939871A>G	GRCh38
NC_000014.8:g.88406215A>G , CM000676.1:g.88406215A>G	GRCh37
NC_000014.7:g.87475968A>G	NCBI36
NG_011853.2:g.58693T>C
NG_011853.3:g.58693T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+34T>C MANE Select	ENSP00000261304.2:n.1911+34T>C
ENST00000261304.6:c.1911+34T>C	ENSP00000261304.2:n.1911+34T>C
ENST00000393568.8:c.1842+34T>C	ENSP00000377198.4:n.1842+34T>C
ENST00000393569.6:c.1833+34T>C	ENSP00000377199.2:n.1833+34T>C
ENST00000544807.6:c.1743+34T>C	ENSP00000437513.2:n.1743+34T>C
ENST00000555000.5:c.1278+34T>C	ENSP00000450472.1:n.1278+34T>C
ENST00000555179.1:c.447+34T>C
NM_000153.3:c.1911+34T>C	NP_000144.2:n.1911+34T>C
NM_001201401.1:c.1842+34T>C	NP_001188330.1:n.1842+34T>C
NM_001201402.1:c.1833+34T>C	NP_001188331.1:n.1833+34T>C
XM_011536618.1:c.1743+34T>C	XP_011534920.1:n.1743+34T>C
XM_011536618.2:c.1743+34T>C	XP_011534920.1:n.1743+34T>C
NM_000153.4:c.1911+34T>C MANE Select	NP_000144.2:n.1911+34T>C
NM_001201401.2:c.1842+34T>C	NP_001188330.1:n.1842+34T>C
NM_001201402.2:c.1833+34T>C	NP_001188331.1:n.1833+34T>C