Canonical Allele Identifier: CA658822589

Gene: GALT

Linked Data

• ClinVar Variation Id: 557088
• ClinVar RCV Id: RCV000673179
• dbSNP Id: rs1554709146
• MyVariant Identifiers: chr9:g.34647170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647170del , CM000671.2:g.34647170del	GRCh38
NC_000009.11:g.34647167del , CM000671.1:g.34647167del	GRCh37
NC_000009.10:g.34637167del	NCBI36
NG_009029.1:g.5533del
NG_009029.2:g.5582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.164del	ENSP00000509954.1:p.Gly55ValfsTer8
ENST00000378842.8:c.164del MANE Select	ENSP00000368119.4:p.Gly55ValfsTer8
ENST00000378842.7:c.164del	ENSP00000368119.3:p.Gly55ValfsTer8
ENST00000450095.6:c.-39del	ENSP00000401956.2:n.-39del
ENST00000465543.6:n.503del
ENST00000468099.2:n.204del
ENST00000472111.5:n.205del
ENST00000473506.6:c.164del	ENSP00000432839.2:p.Gly55ValfsTer8
ENST00000473529.5:n.211del
ENST00000485531.1:n.157del
ENST00000487381.5:n.190del
ENST00000489643.6:n.194del
ENST00000554085.5:c.164del	ENSP00000450419.1:p.Gly55ValfsTer8
ENST00000554139.5:n.217del
ENST00000554330.5:n.161del
ENST00000554550.5:c.164del	ENSP00000451435.1:p.Gly55ValfsTer8
ENST00000554638.5:n.188del
ENST00000554897.5:c.164del	ENSP00000450942.1:p.Gly55ValfsTer8
ENST00000554944.5:n.194del
ENST00000555020.5:n.194del
ENST00000555086.5:n.168del
ENST00000555214.5:n.173del
ENST00000556157.1:n.271del
ENST00000556244.1:c.48del
ENST00000556278.1:c.164del	ENSP00000451792.1:p.Gly55ValfsTer8
ENST00000556403.5:n.177del
ENST00000556494.5:n.196del
ENST00000557541.5:n.357del
ENST00000557706.5:n.278del
NM_000155.3:c.164del	NP_000146.2:p.Gly55ValfsTer8
NM_001258332.1:c.-39del	NP_001245261.1:n.-39del
NM_000155.4:c.164del MANE Select	NP_000146.2:p.Gly55ValfsTer8
NM_001258332.2:c.-39del	NP_001245261.1:n.-39del