Canonical Allele Identifier: CA390745979

Gene: GALC

Linked Data

• dbSNP Id: rs1595193997
• gnomAD v4: 14-87945568-A-G
• MyVariant Identifiers: chr14:g.88411912A>G (hg19) ; chr14:g.87945568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945568A>G , CM000676.2:g.87945568A>G	GRCh38
NC_000014.8:g.88411912A>G , CM000676.1:g.88411912A>G	GRCh37
NC_000014.7:g.87481665A>G	NCBI36
NG_011853.2:g.52996T>C
NG_011853.3:g.52996T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1655T>C MANE Select	ENSP00000261304.2:p.Ile552Thr
ENST00000261304.6:c.1655T>C	ENSP00000261304.2:p.Ile552Thr
ENST00000393568.8:c.1586T>C	ENSP00000377198.4:p.Ile529Thr
ENST00000393569.6:c.1577T>C	ENSP00000377199.2:p.Ile526Thr
ENST00000544807.6:c.1487T>C	ENSP00000437513.2:p.Ile496Thr
ENST00000555000.5:c.1022T>C	ENSP00000450472.1:p.Ile341Thr
ENST00000555179.1:c.206+2160T>C
ENST00000557316.5:c.*1053T>C	ENSP00000452314.1:n.*1053T>C
NM_000153.3:c.1655T>C	NP_000144.2:p.Ile552Thr
NM_001201401.1:c.1586T>C	NP_001188330.1:p.Ile529Thr
NM_001201402.1:c.1577T>C	NP_001188331.1:p.Ile526Thr
XM_011536618.1:c.1487T>C	XP_011534920.1:p.Ile496Thr
XM_011536618.2:c.1487T>C	XP_011534920.1:p.Ile496Thr
NM_000153.4:c.1655T>C MANE Select	NP_000144.2:p.Ile552Thr
NM_001201401.2:c.1586T>C	NP_001188330.1:p.Ile529Thr
NM_001201402.2:c.1577T>C	NP_001188331.1:p.Ile526Thr