Canonical Allele Identifier: CA16041701

Gene: GALC

Linked Data

• ClinVar Variation Id: 370367
• ClinVar RCV Id: RCV000411117
• dbSNP Id: rs776368825
• gnomAD v2: 14-88431936-G-A
• gnomAD v4: 14-87965592-G-A
• MyVariant Identifiers: chr14:g.88431936G>A (hg19) ; chr14:g.87965592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965592G>A , CM000676.2:g.87965592G>A	GRCh38
NC_000014.8:g.88431936G>A , CM000676.1:g.88431936G>A	GRCh37
NC_000014.7:g.87501689G>A	NCBI36
NG_011853.2:g.32972C>T
NG_011853.3:g.32972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.946C>T MANE Select	ENSP00000261304.2:p.Gln316Ter
ENST00000261304.6:c.946C>T	ENSP00000261304.2:p.Gln316Ter
ENST00000393568.8:c.877C>T	ENSP00000377198.4:p.Gln293Ter
ENST00000393569.6:c.868C>T	ENSP00000377199.2:p.Gln290Ter
ENST00000474294.6:n.936C>T
ENST00000544807.6:c.778C>T	ENSP00000437513.2:p.Gln260Ter
ENST00000555000.5:c.313C>T	ENSP00000450472.1:p.Gln105Ter
ENST00000557316.5:c.*344C>T	ENSP00000452314.1:n.*344C>T
ENST00000557520.1:n.32C>T
ENST00000622264.4:c.936C>T
NM_000153.3:c.946C>T	NP_000144.2:p.Gln316Ter
NM_001201401.1:c.877C>T	NP_001188330.1:p.Gln293Ter
NM_001201402.1:c.868C>T	NP_001188331.1:p.Gln290Ter
XM_011536618.1:c.778C>T	XP_011534920.1:p.Gln260Ter
XM_011536618.2:c.778C>T	XP_011534920.1:p.Gln260Ter
NM_000153.4:c.946C>T MANE Select	NP_000144.2:p.Gln316Ter
NM_001201401.2:c.877C>T	NP_001188330.1:p.Gln293Ter
NM_001201402.2:c.868C>T	NP_001188331.1:p.Gln290Ter