Canonical Allele Identifier: CA264708294

Gene: GALC

Linked Data

• dbSNP Id: rs979333006
• gnomAD v4: 14-87976397-A-G
• MyVariant Identifiers: chr14:g.88442741A>G (hg19) ; chr14:g.87976397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976397A>G , CM000676.2:g.87976397A>G	GRCh38
NC_000014.8:g.88442741A>G , CM000676.1:g.88442741A>G	GRCh37
NC_000014.7:g.87512494A>G	NCBI36
NG_011853.2:g.22167T>C
NG_011853.3:g.22167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.713T>C MANE Select	ENSP00000261304.2:p.Leu238Pro
ENST00000261304.6:c.713T>C	ENSP00000261304.2:p.Leu238Pro
ENST00000393568.8:c.644T>C	ENSP00000377198.4:p.Leu215Pro
ENST00000393569.6:c.635T>C	ENSP00000377199.2:p.Leu212Pro
ENST00000474294.6:n.703T>C
ENST00000477716.3:n.468T>C
ENST00000544807.6:c.545T>C	ENSP00000437513.2:p.Leu182Pro
ENST00000554916.5:n.592T>C
ENST00000555000.5:c.80T>C	ENSP00000450472.1:p.Leu27Pro
ENST00000557316.5:c.*111T>C	ENSP00000452314.1:n.*111T>C
ENST00000622264.4:c.703T>C
NM_000153.3:c.713T>C	NP_000144.2:p.Leu238Pro
NM_001201401.1:c.644T>C	NP_001188330.1:p.Leu215Pro
NM_001201402.1:c.635T>C	NP_001188331.1:p.Leu212Pro
XM_011536618.1:c.545T>C	XP_011534920.1:p.Leu182Pro
XM_011536618.2:c.545T>C	XP_011534920.1:p.Leu182Pro
NM_000153.4:c.713T>C MANE Select	NP_000144.2:p.Leu238Pro
NM_001201401.2:c.644T>C	NP_001188330.1:p.Leu215Pro
NM_001201402.2:c.635T>C	NP_001188331.1:p.Leu212Pro