Canonical Allele Identifier: CA390746236

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412029A>G (hg19) ; chr14:g.87945685A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945685A>G , CM000676.2:g.87945685A>G	GRCh38
NC_000014.8:g.88412029A>G , CM000676.1:g.88412029A>G	GRCh37
NC_000014.7:g.87481782A>G	NCBI36
NG_011853.2:g.52879T>C
NG_011853.3:g.52879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1538T>C MANE Select	ENSP00000261304.2:p.Val513Ala
ENST00000261304.6:c.1538T>C	ENSP00000261304.2:p.Val513Ala
ENST00000393568.8:c.1469T>C	ENSP00000377198.4:p.Val490Ala
ENST00000393569.6:c.1460T>C	ENSP00000377199.2:p.Val487Ala
ENST00000544807.6:c.1370T>C	ENSP00000437513.2:p.Val457Ala
ENST00000555000.5:c.905T>C	ENSP00000450472.1:p.Val302Ala
ENST00000555179.1:c.206+2043T>C
ENST00000557316.5:c.*936T>C	ENSP00000452314.1:n.*936T>C
NM_000153.3:c.1538T>C	NP_000144.2:p.Val513Ala
NM_001201401.1:c.1469T>C	NP_001188330.1:p.Val490Ala
NM_001201402.1:c.1460T>C	NP_001188331.1:p.Val487Ala
XM_011536618.1:c.1370T>C	XP_011534920.1:p.Val457Ala
XM_011536618.2:c.1370T>C	XP_011534920.1:p.Val457Ala
NM_000153.4:c.1538T>C MANE Select	NP_000144.2:p.Val513Ala
NM_001201401.2:c.1469T>C	NP_001188330.1:p.Val490Ala
NM_001201402.2:c.1460T>C	NP_001188331.1:p.Val487Ala