Canonical Allele Identifier: CA1123156918

Gene: GALT

Linked Data

• dbSNP Id: rs1821138034
• gnomAD v3: 9-34647593-GGA-G
• gnomAD v4: 9-34647593-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647595_34647596del , CM000671.2:g.34647595_34647596del	GRCh38
NC_000009.11:g.34647592_34647593del , CM000671.1:g.34647592_34647593del	GRCh37
NC_000009.10:g.34637592_34637593del	NCBI36
NG_009029.1:g.5958_5959del
NG_028966.1:g.411_412del
NG_009029.2:g.6007_6008del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+28_328+29del	ENSP00000509954.1:n.328+28_328+29del
ENST00000378842.8:c.328+28_328+29del MANE Select	ENSP00000368119.4:n.328+28_328+29del
ENST00000378842.7:c.328+28_328+29del	ENSP00000368119.3:n.328+28_328+29del
ENST00000450095.6:c.51-237_51-236del	ENSP00000401956.2:n.51-237_51-236del
ENST00000465543.6:n.667+28_667+29del
ENST00000472111.5:n.397_398del
ENST00000473506.6:c.279+28_279+29del	ENSP00000432839.2:n.279+28_279+29del
ENST00000473529.5:n.403_404del
ENST00000485531.1:n.582_583del
ENST00000487381.5:n.587+28_587+29del
ENST00000489643.6:n.282+337_282+338del
ENST00000554085.5:c.*72+28_*72+29del	ENSP00000450419.1:n.*72+28_*72+29del
ENST00000554139.5:n.381+28_381+29del
ENST00000554330.5:n.304_305del
ENST00000554550.5:c.253-237_253-236del	ENSP00000451435.1:n.253-237_253-236del
ENST00000554638.5:n.613_614del
ENST00000554897.5:c.253-237_253-236del	ENSP00000450942.1:n.253-237_253-236del
ENST00000554944.5:n.337_338del
ENST00000555020.5:n.358+28_358+29del
ENST00000555086.5:n.332+28_332+29del
ENST00000555214.5:n.261+337_261+338del
ENST00000556157.1:n.452+28_452+29del
ENST00000556244.1:c.315+28_315+29del
ENST00000556278.1:c.252+337_252+338del	ENSP00000451792.1:n.252+337_252+338del
ENST00000556403.5:n.369_370del
ENST00000556494.5:n.388_389del
ENST00000557541.5:n.472+28_472+29del
ENST00000557706.5:n.703_704del
NM_000155.3:c.328+28_328+29del	NP_000146.2:n.328+28_328+29del
NM_001258332.1:c.51-237_51-236del	NP_001245261.1:n.51-237_51-236del
NM_000155.4:c.328+28_328+29del MANE Select	NP_000146.2:n.328+28_328+29del
NM_001258332.2:c.51-237_51-236del	NP_001245261.1:n.51-237_51-236del