Canonical Allele Identifier: CA390747706

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434689A>G (hg19) ; chr14:g.87968345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968345A>G , CM000676.2:g.87968345A>G	GRCh38
NC_000014.8:g.88434689A>G , CM000676.1:g.88434689A>G	GRCh37
NC_000014.7:g.87504442A>G	NCBI36
NG_011853.2:g.30219T>C
NG_011853.3:g.30219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.898T>C MANE Select	ENSP00000261304.2:p.Tyr300His
ENST00000261304.6:c.898T>C	ENSP00000261304.2:p.Tyr300His
ENST00000393568.8:c.829T>C	ENSP00000377198.4:p.Tyr277His
ENST00000393569.6:c.820T>C	ENSP00000377199.2:p.Tyr274His
ENST00000474294.6:n.888T>C
ENST00000544807.6:c.730T>C	ENSP00000437513.2:p.Tyr244His
ENST00000555000.5:c.265T>C	ENSP00000450472.1:p.Tyr89His
ENST00000557316.5:c.*296T>C	ENSP00000452314.1:n.*296T>C
ENST00000622264.4:c.888T>C
NM_000153.3:c.898T>C	NP_000144.2:p.Tyr300His
NM_001201401.1:c.829T>C	NP_001188330.1:p.Tyr277His
NM_001201402.1:c.820T>C	NP_001188331.1:p.Tyr274His
XM_011536618.1:c.730T>C	XP_011534920.1:p.Tyr244His
XM_011536618.2:c.730T>C	XP_011534920.1:p.Tyr244His
NM_000153.4:c.898T>C MANE Select	NP_000144.2:p.Tyr300His
NM_001201401.2:c.829T>C	NP_001188330.1:p.Tyr277His
NM_001201402.2:c.820T>C	NP_001188331.1:p.Tyr274His