Canonical Allele Identifier: CA390747697

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434686T>A (hg19) ; chr14:g.87968342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968342T>A , CM000676.2:g.87968342T>A	GRCh38
NC_000014.8:g.88434686T>A , CM000676.1:g.88434686T>A	GRCh37
NC_000014.7:g.87504439T>A	NCBI36
NG_011853.2:g.30222A>T
NG_011853.3:g.30222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.901A>T MANE Select	ENSP00000261304.2:p.Met301Leu
ENST00000261304.6:c.901A>T	ENSP00000261304.2:p.Met301Leu
ENST00000393568.8:c.832A>T	ENSP00000377198.4:p.Met278Leu
ENST00000393569.6:c.823A>T	ENSP00000377199.2:p.Met275Leu
ENST00000474294.6:n.891A>T
ENST00000544807.6:c.733A>T	ENSP00000437513.2:p.Met245Leu
ENST00000555000.5:c.268A>T	ENSP00000450472.1:p.Met90Leu
ENST00000557316.5:c.*299A>T	ENSP00000452314.1:n.*299A>T
ENST00000622264.4:c.891A>T
NM_000153.3:c.901A>T	NP_000144.2:p.Met301Leu
NM_001201401.1:c.832A>T	NP_001188330.1:p.Met278Leu
NM_001201402.1:c.823A>T	NP_001188331.1:p.Met275Leu
XM_011536618.1:c.733A>T	XP_011534920.1:p.Met245Leu
XM_011536618.2:c.733A>T	XP_011534920.1:p.Met245Leu
NM_000153.4:c.901A>T MANE Select	NP_000144.2:p.Met301Leu
NM_001201401.2:c.832A>T	NP_001188330.1:p.Met278Leu
NM_001201402.2:c.823A>T	NP_001188331.1:p.Met275Leu