Canonical Allele Identifier: CA192670484

Gene: GALT

Linked Data

• dbSNP Id: rs1554709430

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648852del , CM000671.2:g.34648852del	GRCh38
NC_000009.11:g.34648849del , CM000671.1:g.34648849del	GRCh37
NC_000009.10:g.34638849del	NCBI36
NG_009029.1:g.7215del
NG_028966.1:g.1668del
NG_009029.2:g.7264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*366del	ENSP00000509954.1:n.*366del
ENST00000378842.8:c.778del MANE Select	ENSP00000368119.4:p.His260MetfsTer8
ENST00000378842.7:c.778del	ENSP00000368119.3:p.His260MetfsTer8
ENST00000450095.6:c.451del	ENSP00000401956.2:p.His151MetfsTer8
ENST00000473506.6:c.*366del	ENSP00000432839.2:n.*366del
ENST00000489643.6:n.858del
ENST00000554085.5:c.*522del	ENSP00000450419.1:n.*522del
ENST00000554550.5:c.*398del	ENSP00000451435.1:n.*398del
ENST00000554638.5:n.1250del
ENST00000555020.5:n.1239del
ENST00000555086.5:n.782del
ENST00000555754.1:n.123del
ENST00000556244.1:c.765del
ENST00000556278.1:c.432+396del	ENSP00000451792.1:n.432+396del
ENST00000557706.5:n.1340del
NM_000155.3:c.778del	NP_000146.2:p.His260MetfsTer8
NM_001258332.1:c.451del	NP_001245261.1:p.His151MetfsTer8
NM_000155.4:c.778del MANE Select	NP_000146.2:p.His260MetfsTer8
NM_001258332.2:c.451del	NP_001245261.1:p.His151MetfsTer8