Canonical Allele Identifier: CA390749733

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442814T>A (hg19) ; chr14:g.87976470T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976470T>A , CM000676.2:g.87976470T>A	GRCh38
NC_000014.8:g.88442814T>A , CM000676.1:g.88442814T>A	GRCh37
NC_000014.7:g.87512567T>A	NCBI36
NG_011853.2:g.22094A>T
NG_011853.3:g.22094A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.640A>T MANE Select	ENSP00000261304.2:p.Asn214Tyr
ENST00000261304.6:c.640A>T	ENSP00000261304.2:p.Asn214Tyr
ENST00000393568.8:c.571A>T	ENSP00000377198.4:p.Asn191Tyr
ENST00000393569.6:c.562A>T	ENSP00000377199.2:p.Asn188Tyr
ENST00000474294.6:n.630A>T
ENST00000477716.3:n.395A>T
ENST00000544807.6:c.472A>T	ENSP00000437513.2:p.Asn158Tyr
ENST00000554916.5:n.519A>T
ENST00000555000.5:c.7A>T	ENSP00000450472.1:p.Asn3Tyr
ENST00000557316.5:c.*38A>T	ENSP00000452314.1:n.*38A>T
ENST00000622264.4:c.630A>T
NM_000153.3:c.640A>T	NP_000144.2:p.Asn214Tyr
NM_001201401.1:c.571A>T	NP_001188330.1:p.Asn191Tyr
NM_001201402.1:c.562A>T	NP_001188331.1:p.Asn188Tyr
XM_011536618.1:c.472A>T	XP_011534920.1:p.Asn158Tyr
XM_011536618.2:c.472A>T	XP_011534920.1:p.Asn158Tyr
NM_000153.4:c.640A>T MANE Select	NP_000144.2:p.Asn214Tyr
NM_001201401.2:c.571A>T	NP_001188330.1:p.Asn191Tyr
NM_001201402.2:c.562A>T	NP_001188331.1:p.Asn188Tyr