Canonical Allele Identifier: CA259494
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033770
MyVariant Identifiers: chr9:g.34648839_34648841del (hg19) chr9:g.34648842_34648844del (hg38)
PubMed: PMID:10408771
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648842_34648844del , CM000671.2:g.34648842_34648844del GRCh38
NC_000009.11:g.34648839_34648841del , CM000671.1:g.34648839_34648841del GRCh37
NC_000009.10:g.34638839_34638841del NCBI36
NG_009029.1:g.7205_7207del
NG_028966.1:g.1658_1660del
NG_009029.2:g.7254_7256del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*356_*358del ENSP00000509954.1:n.*356_*358del
ENST00000378842.8:c.768_770del MANE Select ENSP00000368119.4:p.Pro257del
ENST00000378842.7:c.768_770del ENSP00000368119.3:p.Pro257del
ENST00000450095.6:c.441_443del ENSP00000401956.2:p.Pro148del
ENST00000473506.6:c.*356_*358del ENSP00000432839.2:n.*356_*358del
ENST00000489643.6:n.848_850del
ENST00000554085.5:c.*512_*514del ENSP00000450419.1:n.*512_*514del
ENST00000554550.5:c.*388_*390del ENSP00000451435.1:n.*388_*390del
ENST00000554638.5:n.1240_1242del
ENST00000555020.5:n.1229_1231del
ENST00000555086.5:n.772_774del
ENST00000555754.1:n.113_115del
ENST00000556244.1:c.755_757del
ENST00000556278.1:c.432+386_432+388del ENSP00000451792.1:n.432+386_432+388del
ENST00000557706.5:n.1330_1332del
NM_000155.3:c.768_770del NP_000146.2:p.Pro257del
NM_001258332.1:c.441_443del NP_001245261.1:p.Pro148del
NM_000155.4:c.768_770del MANE Select NP_000146.2:p.Pro257del
NM_001258332.2:c.441_443del NP_001245261.1:p.Pro148del
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