Canonical Allele Identifier: CA464403255

Gene: GALT

Linked Data

• dbSNP Id: rs1353683150
• gnomAD v2: 9-34648860-GC-G
• gnomAD v4: 9-34648863-GC-G
• MyVariant Identifiers: chr9:g.34648861del (hg19) ; chr9:g.34648861delC (hg19) ; chr9:g.34648864del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648864del , CM000671.2:g.34648864del	GRCh38
NC_000009.11:g.34648861del , CM000671.1:g.34648861del	GRCh37
NC_000009.10:g.34638861del	NCBI36
NG_009029.1:g.7227del
NG_028966.1:g.1680del
NG_009029.2:g.7276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*378del	ENSP00000509954.1:n.*378del
ENST00000378842.8:c.790del MANE Select	ENSP00000368119.4:p.Leu264TyrfsTer4
ENST00000378842.7:c.790del	ENSP00000368119.3:p.Leu264TyrfsTer4
ENST00000450095.6:c.463del	ENSP00000401956.2:p.Leu155TyrfsTer4
ENST00000473506.6:c.*378del	ENSP00000432839.2:n.*378del
ENST00000489643.6:n.870del
ENST00000554085.5:c.*534del	ENSP00000450419.1:n.*534del
ENST00000554550.5:c.*410del	ENSP00000451435.1:n.*410del
ENST00000554638.5:n.1262del
ENST00000555020.5:n.1251del
ENST00000555086.5:n.794del
ENST00000555754.1:n.135del
ENST00000556244.1:c.777del
ENST00000556278.1:c.432+408del	ENSP00000451792.1:n.432+408del
ENST00000557706.5:n.1352del
NM_000155.3:c.790del	NP_000146.2:p.Leu264TyrfsTer4
NM_001258332.1:c.463del	NP_001245261.1:p.Leu155TyrfsTer4
NM_000155.4:c.790del MANE Select	NP_000146.2:p.Leu264TyrfsTer4
NM_001258332.2:c.463del	NP_001245261.1:p.Leu155TyrfsTer4