Canonical Allele Identifier: CA2153385603

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984401_87984402delinsTA , CM000676.2:g.87984401_87984402delinsTA	GRCh38
NC_000014.8:g.88450745_88450746delinsTA , CM000676.1:g.88450745_88450746delinsTA	GRCh37
NC_000014.7:g.87520498_87520499delinsTA	NCBI36
NG_011853.2:g.14162_14163delinsTA
NG_011853.3:g.14162_14163delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.574_575delinsTA MANE Select	ENSP00000261304.2:p.Tyr192=
ENST00000261304.6:c.574_575delinsTA	ENSP00000261304.2:p.Tyr192=
ENST00000393568.8:c.505_506delinsTA	ENSP00000377198.4:p.Tyr169=
ENST00000393569.6:c.496_497delinsTA	ENSP00000377199.2:p.Tyr166=
ENST00000474294.6:n.564_565delinsTA
ENST00000544807.6:c.406_407delinsTA	ENSP00000437513.2:p.Tyr136=
ENST00000554372.5:c.*323_*324delinsTA	ENSP00000451884.1:n.*323_*324delinsTA
ENST00000554916.5:n.453_454delinsTA
ENST00000556261.5:n.275_276delinsTA
ENST00000557316.5:c.574_575delinsTA	ENSP00000452314.1:p.Tyr192=
ENST00000622264.4:c.564_565delinsTA
NM_000153.3:c.574_575delinsTA	NP_000144.2:p.Tyr192=
NM_001201401.1:c.505_506delinsTA	NP_001188330.1:p.Tyr169=
NM_001201402.1:c.496_497delinsTA	NP_001188331.1:p.Tyr166=
XM_011536618.1:c.406_407delinsTA	XP_011534920.1:p.Tyr136=
XM_011536618.2:c.406_407delinsTA	XP_011534920.1:p.Tyr136=
NM_000153.4:c.574_575delinsTA MANE Select	NP_000144.2:p.Tyr192=
NM_001201401.2:c.505_506delinsTA	NP_001188330.1:p.Tyr169=
NM_001201402.2:c.496_497delinsTA	NP_001188331.1:p.Tyr166=