Canonical Allele Identifier: CA464595689

Gene: GALT

Linked Data

• ClinVar Variation Id: 555536
• ClinVar RCV Id: RCV000671377
• dbSNP Id: rs1554709139
• MyVariant Identifiers: chr9:g.34647135delG (hg19) ; chr9:g.34647138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647138del , CM000671.2:g.34647138del	GRCh38
NC_000009.11:g.34647135del , CM000671.1:g.34647135del	GRCh37
NC_000009.10:g.34637135del	NCBI36
NG_009029.1:g.5501del
NG_009029.2:g.5550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.132del	ENSP00000509954.1:p.Ser45GlnfsTer5
ENST00000378842.8:c.132del MANE Select	ENSP00000368119.4:p.Ser45GlnfsTer5
ENST00000378842.7:c.132del	ENSP00000368119.3:p.Ser45GlnfsTer5
ENST00000450095.6:c.-71del	ENSP00000401956.2:n.-71del
ENST00000465543.6:n.471del
ENST00000468099.2:n.172del
ENST00000472111.5:n.173del
ENST00000473506.6:c.132del	ENSP00000432839.2:p.Ser45GlnfsTer5
ENST00000473529.5:n.179del
ENST00000485531.1:n.125del
ENST00000487381.5:n.158del
ENST00000489643.6:n.162del
ENST00000554085.5:c.132del	ENSP00000450419.1:p.Ser45GlnfsTer5
ENST00000554139.5:n.185del
ENST00000554330.5:n.129del
ENST00000554550.5:c.132del	ENSP00000451435.1:p.Ser45GlnfsTer5
ENST00000554638.5:n.156del
ENST00000554897.5:c.132del	ENSP00000450942.1:p.Ser45GlnfsTer5
ENST00000554944.5:n.162del
ENST00000555020.5:n.162del
ENST00000555086.5:n.136del
ENST00000555214.5:n.141del
ENST00000556157.1:n.239del
ENST00000556244.1:c.16del
ENST00000556278.1:c.132del	ENSP00000451792.1:p.Ser45GlnfsTer5
ENST00000556403.5:n.145del
ENST00000556494.5:n.164del
ENST00000557541.5:n.325del
ENST00000557706.5:n.246del
ENST00000605275.1:n.670del
NM_000155.3:c.132del	NP_000146.2:p.Ser45GlnfsTer5
NM_001258332.1:c.-71del	NP_001245261.1:n.-71del
NM_000155.4:c.132del MANE Select	NP_000146.2:p.Ser45GlnfsTer5
NM_001258332.2:c.-71del	NP_001245261.1:n.-71del