Canonical Allele Identifier: CA7297306

Gene: GALC

Linked Data

• dbSNP Id: rs774098253
• ExAC: 14:88448550 TTAATA / T
• gnomAD v2: 14-88448550-TTAATA-T
• gnomAD v3: 14-87982206-TTAATA-T
• gnomAD v4: 14-87982206-TTAATA-T
• MyVariant Identifiers: chr14:g.88448551_88448555del (hg19) ; chr14:g.87982207_87982211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982211_87982215del , CM000676.2:g.87982211_87982215del	GRCh38
NC_000014.8:g.88448555_88448559del , CM000676.1:g.88448555_88448559del	GRCh37
NC_000014.7:g.87518308_87518312del	NCBI36
NG_011853.2:g.16353_16357del
NG_011853.3:g.16353_16357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.615_619del MANE Select	ENSP00000261304.2:p.Tyr205Ter
ENST00000261304.6:c.615_619del	ENSP00000261304.2:p.Tyr205Ter
ENST00000393568.8:c.546_550del	ENSP00000377198.4:p.Tyr182Ter
ENST00000393569.6:c.537_541del	ENSP00000377199.2:p.Tyr179Ter
ENST00000474294.6:n.605_609del
ENST00000544807.6:c.447_451del	ENSP00000437513.2:p.Tyr149Ter
ENST00000554372.5:c.*364_*368del	ENSP00000451884.1:n.*364_*368del
ENST00000554916.5:n.494_498del
ENST00000556261.5:n.316_320del
ENST00000557316.5:c.615_619del	ENSP00000452314.1:p.Tyr205Ter
ENST00000622264.4:c.605_609del
NM_000153.3:c.615_619del	NP_000144.2:p.Tyr205Ter
NM_001201401.1:c.546_550del	NP_001188330.1:p.Tyr182Ter
NM_001201402.1:c.537_541del	NP_001188331.1:p.Tyr179Ter
XM_011536618.1:c.447_451del	XP_011534920.1:p.Tyr149Ter
XM_011536618.2:c.447_451del	XP_011534920.1:p.Tyr149Ter
NM_000153.4:c.615_619del MANE Select	NP_000144.2:p.Tyr205Ter
NM_001201401.2:c.546_550del	NP_001188330.1:p.Tyr182Ter
NM_001201402.2:c.537_541del	NP_001188331.1:p.Tyr179Ter