Canonical Allele Identifier: CA390745527

Gene: GALC

Linked Data

• gnomAD v3: 14-87939966-T-C
• gnomAD v4: 14-87939966-T-C
• MyVariant Identifiers: chr14:g.88406310T>C (hg19) ; chr14:g.87939966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939966T>C , CM000676.2:g.87939966T>C	GRCh38
NC_000014.8:g.88406310T>C , CM000676.1:g.88406310T>C	GRCh37
NC_000014.7:g.87476063T>C	NCBI36
NG_011853.2:g.58598A>G
NG_011853.3:g.58598A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1850A>G MANE Select	ENSP00000261304.2:p.Tyr617Cys
ENST00000261304.6:c.1850A>G	ENSP00000261304.2:p.Tyr617Cys
ENST00000393568.8:c.1781A>G	ENSP00000377198.4:p.Tyr594Cys
ENST00000393569.6:c.1772A>G	ENSP00000377199.2:p.Tyr591Cys
ENST00000544807.6:c.1682A>G	ENSP00000437513.2:p.Tyr561Cys
ENST00000555000.5:c.1217A>G	ENSP00000450472.1:p.Tyr406Cys
ENST00000555179.1:c.386A>G
NM_000153.3:c.1850A>G	NP_000144.2:p.Tyr617Cys
NM_001201401.1:c.1781A>G	NP_001188330.1:p.Tyr594Cys
NM_001201402.1:c.1772A>G	NP_001188331.1:p.Tyr591Cys
XM_011536618.1:c.1682A>G	XP_011534920.1:p.Tyr561Cys
XM_011536618.2:c.1682A>G	XP_011534920.1:p.Tyr561Cys
NM_000153.4:c.1850A>G MANE Select	NP_000144.2:p.Tyr617Cys
NM_001201401.2:c.1781A>G	NP_001188330.1:p.Tyr594Cys
NM_001201402.2:c.1772A>G	NP_001188331.1:p.Tyr591Cys