Canonical Allele Identifier: CA390749608

Gene: GALC

Linked Data

• gnomAD v4: 14-87976443-T-G
• MyVariant Identifiers: chr14:g.88442787T>G (hg19) ; chr14:g.87976443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976443T>G , CM000676.2:g.87976443T>G	GRCh38
NC_000014.8:g.88442787T>G , CM000676.1:g.88442787T>G	GRCh37
NC_000014.7:g.87512540T>G	NCBI36
NG_011853.2:g.22121A>C
NG_011853.3:g.22121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.667A>C MANE Select	ENSP00000261304.2:p.Ile223Leu
ENST00000261304.6:c.667A>C	ENSP00000261304.2:p.Ile223Leu
ENST00000393568.8:c.598A>C	ENSP00000377198.4:p.Ile200Leu
ENST00000393569.6:c.589A>C	ENSP00000377199.2:p.Ile197Leu
ENST00000474294.6:n.657A>C
ENST00000477716.3:n.422A>C
ENST00000544807.6:c.499A>C	ENSP00000437513.2:p.Ile167Leu
ENST00000554916.5:n.546A>C
ENST00000555000.5:c.34A>C	ENSP00000450472.1:p.Ile12Leu
ENST00000557316.5:c.*65A>C	ENSP00000452314.1:n.*65A>C
ENST00000622264.4:c.657A>C
NM_000153.3:c.667A>C	NP_000144.2:p.Ile223Leu
NM_001201401.1:c.598A>C	NP_001188330.1:p.Ile200Leu
NM_001201402.1:c.589A>C	NP_001188331.1:p.Ile197Leu
XM_011536618.1:c.499A>C	XP_011534920.1:p.Ile167Leu
XM_011536618.2:c.499A>C	XP_011534920.1:p.Ile167Leu
NM_000153.4:c.667A>C MANE Select	NP_000144.2:p.Ile223Leu
NM_001201401.2:c.598A>C	NP_001188330.1:p.Ile200Leu
NM_001201402.2:c.589A>C	NP_001188331.1:p.Ile197Leu