Canonical Allele Identifier: CA390747574

Gene: GALC

Linked Data

• gnomAD v4: 14-87965586-G-A
• MyVariant Identifiers: chr14:g.88431930G>A (hg19) ; chr14:g.87965586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965586G>A , CM000676.2:g.87965586G>A	GRCh38
NC_000014.8:g.88431930G>A , CM000676.1:g.88431930G>A	GRCh37
NC_000014.7:g.87501683G>A	NCBI36
NG_011853.2:g.32978C>T
NG_011853.3:g.32978C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.952C>T MANE Select	ENSP00000261304.2:p.Pro318Ser
ENST00000261304.6:c.952C>T	ENSP00000261304.2:p.Pro318Ser
ENST00000393568.8:c.883C>T	ENSP00000377198.4:p.Pro295Ser
ENST00000393569.6:c.874C>T	ENSP00000377199.2:p.Pro292Ser
ENST00000474294.6:n.942C>T
ENST00000544807.6:c.784C>T	ENSP00000437513.2:p.Pro262Ser
ENST00000555000.5:c.319C>T	ENSP00000450472.1:p.Pro107Ser
ENST00000557316.5:c.*350C>T	ENSP00000452314.1:n.*350C>T
ENST00000557520.1:n.38C>T
ENST00000622264.4:c.942C>T
NM_000153.3:c.952C>T	NP_000144.2:p.Pro318Ser
NM_001201401.1:c.883C>T	NP_001188330.1:p.Pro295Ser
NM_001201402.1:c.874C>T	NP_001188331.1:p.Pro292Ser
XM_011536618.1:c.784C>T	XP_011534920.1:p.Pro262Ser
XM_011536618.2:c.784C>T	XP_011534920.1:p.Pro262Ser
NM_000153.4:c.952C>T MANE Select	NP_000144.2:p.Pro318Ser
NM_001201401.2:c.883C>T	NP_001188330.1:p.Pro295Ser
NM_001201402.2:c.874C>T	NP_001188331.1:p.Pro292Ser