Canonical Allele Identifier: CA7297332

Gene: GALC

Linked Data

• dbSNP Id: rs756626444
• ExAC: 14:88450745 T / C
• gnomAD v2: 14-88450745-T-C
• gnomAD v3: 14-87984401-T-C
• gnomAD v4: 14-87984401-T-C
• MyVariant Identifiers: chr14:g.88450745T>C (hg19) ; chr14:g.88450745_88450746delinsCA (hg19) ; chr14:g.87984401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984401T>C , CM000676.2:g.87984401T>C	GRCh38
NC_000014.8:g.88450745T>C , CM000676.1:g.88450745T>C	GRCh37
NC_000014.7:g.87520498T>C	NCBI36
NG_011853.2:g.14163A>G
NG_011853.3:g.14163A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.575A>G MANE Select	ENSP00000261304.2:p.Tyr192Cys
ENST00000261304.6:c.575A>G	ENSP00000261304.2:p.Tyr192Cys
ENST00000393568.8:c.506A>G	ENSP00000377198.4:p.Tyr169Cys
ENST00000393569.6:c.497A>G	ENSP00000377199.2:p.Tyr166Cys
ENST00000474294.6:n.565A>G
ENST00000544807.6:c.407A>G	ENSP00000437513.2:p.Tyr136Cys
ENST00000554372.5:c.*324A>G	ENSP00000451884.1:n.*324A>G
ENST00000554916.5:n.454A>G
ENST00000556261.5:n.276A>G
ENST00000557316.5:c.575A>G	ENSP00000452314.1:p.Tyr192Cys
ENST00000622264.4:c.565A>G
NM_000153.3:c.575A>G	NP_000144.2:p.Tyr192Cys
NM_001201401.1:c.506A>G	NP_001188330.1:p.Tyr169Cys
NM_001201402.1:c.497A>G	NP_001188331.1:p.Tyr166Cys
XM_011536618.1:c.407A>G	XP_011534920.1:p.Tyr136Cys
XM_011536618.2:c.407A>G	XP_011534920.1:p.Tyr136Cys
NM_000153.4:c.575A>G MANE Select	NP_000144.2:p.Tyr192Cys
NM_001201401.2:c.506A>G	NP_001188330.1:p.Tyr169Cys
NM_001201402.2:c.497A>G	NP_001188331.1:p.Tyr166Cys