Canonical Allele Identifier: CA7296987

Gene: GALC

Linked Data

• dbSNP Id: rs770047605
• ExAC: 14:88412046 A / G
• gnomAD v2: 14-88412046-A-G
• gnomAD v4: 14-87945702-A-G
• MyVariant Identifiers: chr14:g.88412046A>G (hg19) ; chr14:g.87945702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945702A>G , CM000676.2:g.87945702A>G	GRCh38
NC_000014.8:g.88412046A>G , CM000676.1:g.88412046A>G	GRCh37
NC_000014.7:g.87481799A>G	NCBI36
NG_011853.2:g.52862T>C
NG_011853.3:g.52862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1521T>C MANE Select	ENSP00000261304.2:p.Phe507=
ENST00000261304.6:c.1521T>C	ENSP00000261304.2:p.Phe507=
ENST00000393568.8:c.1452T>C	ENSP00000377198.4:p.Phe484=
ENST00000393569.6:c.1443T>C	ENSP00000377199.2:p.Phe481=
ENST00000544807.6:c.1353T>C	ENSP00000437513.2:p.Phe451=
ENST00000555000.5:c.888T>C	ENSP00000450472.1:p.Phe296=
ENST00000555179.1:c.206+2026T>C
ENST00000557316.5:c.*919T>C	ENSP00000452314.1:n.*919T>C
NM_000153.3:c.1521T>C	NP_000144.2:p.Phe507=
NM_001201401.1:c.1452T>C	NP_001188330.1:p.Phe484=
NM_001201402.1:c.1443T>C	NP_001188331.1:p.Phe481=
XM_011536618.1:c.1353T>C	XP_011534920.1:p.Phe451=
XM_011536618.2:c.1353T>C	XP_011534920.1:p.Phe451=
NM_000153.4:c.1521T>C MANE Select	NP_000144.2:p.Phe507=
NM_001201401.2:c.1452T>C	NP_001188330.1:p.Phe484=
NM_001201402.2:c.1443T>C	NP_001188331.1:p.Phe481=