Canonical Allele Identifier: CA2625981048

Gene: GALC

Linked Data

• gnomAD v4: 14-87988541-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988541C>A , CM000676.2:g.87988541C>A	GRCh38
NC_000014.8:g.88454885C>A , CM000676.1:g.88454885C>A	GRCh37
NC_000014.7:g.87524638C>A	NCBI36
NG_011853.2:g.10023G>T
NG_011853.3:g.10023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.196-18G>T MANE Select	ENSP00000261304.2:n.196-18G>T
ENST00000261304.6:c.196-18G>T	ENSP00000261304.2:n.196-18G>T
ENST00000393568.8:c.196-334G>T	ENSP00000377198.4:n.196-334G>T
ENST00000393569.6:c.118-18G>T	ENSP00000377199.2:n.118-18G>T
ENST00000474294.6:n.186-18G>T
ENST00000544807.6:c.28-18G>T	ENSP00000437513.2:n.28-18G>T
ENST00000554372.5:c.196-18G>T	ENSP00000451884.1:n.196-18G>T
ENST00000554916.5:n.75-18G>T
ENST00000556879.5:c.256-18G>T	ENSP00000452208.1:n.256-18G>T
ENST00000557316.5:c.196-18G>T	ENSP00000452314.1:n.196-18G>T
ENST00000622264.4:c.186-18G>T
NM_000153.3:c.196-18G>T	NP_000144.2:n.196-18G>T
NM_001201401.1:c.196-334G>T	NP_001188330.1:n.196-334G>T
NM_001201402.1:c.118-18G>T	NP_001188331.1:n.118-18G>T
XM_011536618.1:c.28-18G>T	XP_011534920.1:n.28-18G>T
XM_011536618.2:c.28-18G>T	XP_011534920.1:n.28-18G>T
NM_000153.4:c.196-18G>T MANE Select	NP_000144.2:n.196-18G>T
NM_001201401.2:c.196-334G>T	NP_001188330.1:n.196-334G>T
NM_001201402.2:c.118-18G>T	NP_001188331.1:n.118-18G>T