Canonical Allele Identifier: CA390747614

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431948T>A (hg19) ; chr14:g.87965604T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965604T>A , CM000676.2:g.87965604T>A	GRCh38
NC_000014.8:g.88431948T>A , CM000676.1:g.88431948T>A	GRCh37
NC_000014.7:g.87501701T>A	NCBI36
NG_011853.2:g.32960A>T
NG_011853.3:g.32960A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.934A>T MANE Select	ENSP00000261304.2:p.Ser312Cys
ENST00000261304.6:c.934A>T	ENSP00000261304.2:p.Ser312Cys
ENST00000393568.8:c.865A>T	ENSP00000377198.4:p.Ser289Cys
ENST00000393569.6:c.856A>T	ENSP00000377199.2:p.Ser286Cys
ENST00000474294.6:n.924A>T
ENST00000544807.6:c.766A>T	ENSP00000437513.2:p.Ser256Cys
ENST00000555000.5:c.301A>T	ENSP00000450472.1:p.Ser101Cys
ENST00000557316.5:c.*332A>T	ENSP00000452314.1:n.*332A>T
ENST00000557520.1:n.20A>T
ENST00000622264.4:c.924A>T
NM_000153.3:c.934A>T	NP_000144.2:p.Ser312Cys
NM_001201401.1:c.865A>T	NP_001188330.1:p.Ser289Cys
NM_001201402.1:c.856A>T	NP_001188331.1:p.Ser286Cys
XM_011536618.1:c.766A>T	XP_011534920.1:p.Ser256Cys
XM_011536618.2:c.766A>T	XP_011534920.1:p.Ser256Cys
NM_000153.4:c.934A>T MANE Select	NP_000144.2:p.Ser312Cys
NM_001201401.2:c.865A>T	NP_001188330.1:p.Ser289Cys
NM_001201402.2:c.856A>T	NP_001188331.1:p.Ser286Cys