Canonical Allele Identifier: CA487366687

Gene: GALC

Linked Data

• gnomAD v4: 14-87988458-A-G
• MyVariant Identifiers: chr14:g.88454802A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988458A>G , CM000676.2:g.87988458A>G	GRCh38
NC_000014.8:g.88454802A>G , CM000676.1:g.88454802A>G	GRCh37
NC_000014.7:g.87524555A>G	NCBI36
NG_011853.2:g.10106T>C
NG_011853.3:g.10106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.261T>C MANE Select	ENSP00000261304.2:p.Phe87=
ENST00000261304.6:c.261T>C	ENSP00000261304.2:p.Phe87=
ENST00000393568.8:c.196-251T>C	ENSP00000377198.4:n.196-251T>C
ENST00000393569.6:c.183T>C	ENSP00000377199.2:p.Phe61=
ENST00000474294.6:n.251T>C
ENST00000544807.6:c.93T>C	ENSP00000437513.2:p.Phe31=
ENST00000554372.5:c.261T>C	ENSP00000451884.1:p.Phe87=
ENST00000554916.5:n.140T>C
ENST00000555956.1:n.66T>C
ENST00000556879.5:c.321T>C	ENSP00000452208.1:n.321T>C
ENST00000557316.5:c.261T>C	ENSP00000452314.1:p.Phe87=
ENST00000622264.4:c.251T>C
NM_000153.3:c.261T>C	NP_000144.2:p.Phe87=
NM_001201401.1:c.196-251T>C	NP_001188330.1:n.196-251T>C
NM_001201402.1:c.183T>C	NP_001188331.1:p.Phe61=
XM_011536618.1:c.93T>C	XP_011534920.1:p.Phe31=
XM_011536618.2:c.93T>C	XP_011534920.1:p.Phe31=
NM_000153.4:c.261T>C MANE Select	NP_000144.2:p.Phe87=
NM_001201401.2:c.196-251T>C	NP_001188330.1:n.196-251T>C
NM_001201402.2:c.183T>C	NP_001188331.1:p.Phe61=