Canonical Allele Identifier: CA390747581

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431934C>A (hg19) ; chr14:g.87965590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965590C>A , CM000676.2:g.87965590C>A	GRCh38
NC_000014.8:g.88431934C>A , CM000676.1:g.88431934C>A	GRCh37
NC_000014.7:g.87501687C>A	NCBI36
NG_011853.2:g.32974G>T
NG_011853.3:g.32974G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.948G>T MANE Select	ENSP00000261304.2:p.Gln316His
ENST00000261304.6:c.948G>T	ENSP00000261304.2:p.Gln316His
ENST00000393568.8:c.879G>T	ENSP00000377198.4:p.Gln293His
ENST00000393569.6:c.870G>T	ENSP00000377199.2:p.Gln290His
ENST00000474294.6:n.938G>T
ENST00000544807.6:c.780G>T	ENSP00000437513.2:p.Gln260His
ENST00000555000.5:c.315G>T	ENSP00000450472.1:p.Gln105His
ENST00000557316.5:c.*346G>T	ENSP00000452314.1:n.*346G>T
ENST00000557520.1:n.34G>T
ENST00000622264.4:c.938G>T
NM_000153.3:c.948G>T	NP_000144.2:p.Gln316His
NM_001201401.1:c.879G>T	NP_001188330.1:p.Gln293His
NM_001201402.1:c.870G>T	NP_001188331.1:p.Gln290His
XM_011536618.1:c.780G>T	XP_011534920.1:p.Gln260His
XM_011536618.2:c.780G>T	XP_011534920.1:p.Gln260His
NM_000153.4:c.948G>T MANE Select	NP_000144.2:p.Gln316His
NM_001201401.2:c.879G>T	NP_001188330.1:p.Gln293His
NM_001201402.2:c.870G>T	NP_001188331.1:p.Gln290His