Canonical Allele Identifier: CA390749422

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442743C>G (hg19) ; chr14:g.87976399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976399C>G , CM000676.2:g.87976399C>G	GRCh38
NC_000014.8:g.88442743C>G , CM000676.1:g.88442743C>G	GRCh37
NC_000014.7:g.87512496C>G	NCBI36
NG_011853.2:g.22165G>C
NG_011853.3:g.22165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.711G>C MANE Select	ENSP00000261304.2:p.Met237Ile
ENST00000261304.6:c.711G>C	ENSP00000261304.2:p.Met237Ile
ENST00000393568.8:c.642G>C	ENSP00000377198.4:p.Met214Ile
ENST00000393569.6:c.633G>C	ENSP00000377199.2:p.Met211Ile
ENST00000474294.6:n.701G>C
ENST00000477716.3:n.466G>C
ENST00000544807.6:c.543G>C	ENSP00000437513.2:p.Met181Ile
ENST00000554916.5:n.590G>C
ENST00000555000.5:c.78G>C	ENSP00000450472.1:p.Met26Ile
ENST00000557316.5:c.*109G>C	ENSP00000452314.1:n.*109G>C
ENST00000622264.4:c.701G>C
NM_000153.3:c.711G>C	NP_000144.2:p.Met237Ile
NM_001201401.1:c.642G>C	NP_001188330.1:p.Met214Ile
NM_001201402.1:c.633G>C	NP_001188331.1:p.Met211Ile
XM_011536618.1:c.543G>C	XP_011534920.1:p.Met181Ile
XM_011536618.2:c.543G>C	XP_011534920.1:p.Met181Ile
NM_000153.4:c.711G>C MANE Select	NP_000144.2:p.Met237Ile
NM_001201401.2:c.642G>C	NP_001188330.1:p.Met214Ile
NM_001201402.2:c.633G>C	NP_001188331.1:p.Met211Ile