Canonical Allele Identifier: CA487366287

Gene: GALC

Linked Data

• COSMIC: COSM3498442 ; COSM4894586
• MyVariant Identifiers: chr14:g.88442785G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976441G>A , CM000676.2:g.87976441G>A	GRCh38
NC_000014.8:g.88442785G>A , CM000676.1:g.88442785G>A	GRCh37
NC_000014.7:g.87512538G>A	NCBI36
NG_011853.2:g.22123C>T
NG_011853.3:g.22123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.669C>T MANE Select	ENSP00000261304.2:p.Ile223=
ENST00000261304.6:c.669C>T	ENSP00000261304.2:p.Ile223=
ENST00000393568.8:c.600C>T	ENSP00000377198.4:p.Ile200=
ENST00000393569.6:c.591C>T	ENSP00000377199.2:p.Ile197=
ENST00000474294.6:n.659C>T
ENST00000477716.3:n.424C>T
ENST00000544807.6:c.501C>T	ENSP00000437513.2:p.Ile167=
ENST00000554916.5:n.548C>T
ENST00000555000.5:c.36C>T	ENSP00000450472.1:p.Ile12=
ENST00000557316.5:c.*67C>T	ENSP00000452314.1:n.*67C>T
ENST00000622264.4:c.659C>T
NM_000153.3:c.669C>T	NP_000144.2:p.Ile223=
NM_001201401.1:c.600C>T	NP_001188330.1:p.Ile200=
NM_001201402.1:c.591C>T	NP_001188331.1:p.Ile197=
XM_011536618.1:c.501C>T	XP_011534920.1:p.Ile167=
XM_011536618.2:c.501C>T	XP_011534920.1:p.Ile167=
NM_000153.4:c.669C>T MANE Select	NP_000144.2:p.Ile223=
NM_001201401.2:c.600C>T	NP_001188330.1:p.Ile200=
NM_001201402.2:c.591C>T	NP_001188331.1:p.Ile197=