Canonical Allele Identifier: CA390752649

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452905T>A (hg19) ; chr14:g.87986561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986561T>A , CM000676.2:g.87986561T>A	GRCh38
NC_000014.8:g.88452905T>A , CM000676.1:g.88452905T>A	GRCh37
NC_000014.7:g.87522658T>A	NCBI36
NG_011853.2:g.12003A>T
NG_011853.3:g.12003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.370A>T MANE Select	ENSP00000261304.2:p.Asn124Tyr
ENST00000261304.6:c.370A>T	ENSP00000261304.2:p.Asn124Tyr
ENST00000393568.8:c.301A>T	ENSP00000377198.4:p.Asn101Tyr
ENST00000393569.6:c.292A>T	ENSP00000377199.2:p.Asn98Tyr
ENST00000474294.6:n.360A>T
ENST00000544807.6:c.202A>T	ENSP00000437513.2:p.Asn68Tyr
ENST00000554372.5:c.*119A>T	ENSP00000451884.1:n.*119A>T
ENST00000554916.5:n.249A>T
ENST00000556261.5:n.71A>T
ENST00000556879.5:c.430A>T	ENSP00000452208.1:n.430A>T
ENST00000557316.5:c.370A>T	ENSP00000452314.1:p.Asn124Tyr
ENST00000622264.4:c.360A>T
NM_000153.3:c.370A>T	NP_000144.2:p.Asn124Tyr
NM_001201401.1:c.301A>T	NP_001188330.1:p.Asn101Tyr
NM_001201402.1:c.292A>T	NP_001188331.1:p.Asn98Tyr
XM_011536618.1:c.202A>T	XP_011534920.1:p.Asn68Tyr
XM_011536618.2:c.202A>T	XP_011534920.1:p.Asn68Tyr
NM_000153.4:c.370A>T MANE Select	NP_000144.2:p.Asn124Tyr
NM_001201401.2:c.301A>T	NP_001188330.1:p.Asn101Tyr
NM_001201402.2:c.292A>T	NP_001188331.1:p.Asn98Tyr