Canonical Allele Identifier: CA390747578

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431932A>G (hg19) ; chr14:g.87965588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965588A>G , CM000676.2:g.87965588A>G	GRCh38
NC_000014.8:g.88431932A>G , CM000676.1:g.88431932A>G	GRCh37
NC_000014.7:g.87501685A>G	NCBI36
NG_011853.2:g.32976T>C
NG_011853.3:g.32976T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.950T>C MANE Select	ENSP00000261304.2:p.Leu317Ser
ENST00000261304.6:c.950T>C	ENSP00000261304.2:p.Leu317Ser
ENST00000393568.8:c.881T>C	ENSP00000377198.4:p.Leu294Ser
ENST00000393569.6:c.872T>C	ENSP00000377199.2:p.Leu291Ser
ENST00000474294.6:n.940T>C
ENST00000544807.6:c.782T>C	ENSP00000437513.2:p.Leu261Ser
ENST00000555000.5:c.317T>C	ENSP00000450472.1:p.Leu106Ser
ENST00000557316.5:c.*348T>C	ENSP00000452314.1:n.*348T>C
ENST00000557520.1:n.36T>C
ENST00000622264.4:c.940T>C
NM_000153.3:c.950T>C	NP_000144.2:p.Leu317Ser
NM_001201401.1:c.881T>C	NP_001188330.1:p.Leu294Ser
NM_001201402.1:c.872T>C	NP_001188331.1:p.Leu291Ser
XM_011536618.1:c.782T>C	XP_011534920.1:p.Leu261Ser
XM_011536618.2:c.782T>C	XP_011534920.1:p.Leu261Ser
NM_000153.4:c.950T>C MANE Select	NP_000144.2:p.Leu317Ser
NM_001201401.2:c.881T>C	NP_001188330.1:p.Leu294Ser
NM_001201402.2:c.872T>C	NP_001188331.1:p.Leu291Ser