Canonical Allele Identifier: CA2579371372

Gene: GALT

Linked Data

• gnomAD v4: 9-34648730-T-TTGATGACTTCCTATCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648732_34648748dup , CM000671.2:g.34648732_34648748dup	GRCh38
NC_000009.11:g.34648729_34648745dup , CM000671.1:g.34648729_34648745dup	GRCh37
NC_000009.10:g.34638729_34638745dup	NCBI36
NG_009029.1:g.7095_7111dup
NG_028966.1:g.1548_1564dup
NG_009029.2:g.7144_7160dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276-30_*276-14dup	ENSP00000509954.1:n.*276-30_*276-14dup
ENST00000378842.8:c.688-30_688-14dup MANE Select	ENSP00000368119.4:n.688-30_688-14dup
ENST00000378842.7:c.688-30_688-14dup	ENSP00000368119.3:n.688-30_688-14dup
ENST00000450095.6:c.361-30_361-14dup	ENSP00000401956.2:n.361-30_361-14dup
ENST00000473506.6:c.*276-30_*276-14dup	ENSP00000432839.2:n.*276-30_*276-14dup
ENST00000473529.5:n.847-30_847-14dup
ENST00000487381.5:n.1348_1364dup
ENST00000489643.6:n.738_754dup
ENST00000554085.5:c.*432-30_*432-14dup	ENSP00000450419.1:n.*432-30_*432-14dup
ENST00000554550.5:c.*308-30_*308-14dup	ENSP00000451435.1:n.*308-30_*308-14dup
ENST00000554638.5:n.1160-30_1160-14dup
ENST00000555020.5:n.1119_1135dup
ENST00000555086.5:n.692-30_692-14dup
ENST00000555754.1:n.33-30_33-14dup
ENST00000556244.1:c.675-30_675-14dup
ENST00000556278.1:c.432+276_432+292dup	ENSP00000451792.1:n.432+276_432+292dup
ENST00000557706.5:n.1250-30_1250-14dup
NM_000155.3:c.688-30_688-14dup	NP_000146.2:n.688-30_688-14dup
NM_001258332.1:c.361-30_361-14dup	NP_001245261.1:n.361-30_361-14dup
NM_000155.4:c.688-30_688-14dup MANE Select	NP_000146.2:n.688-30_688-14dup
NM_001258332.2:c.361-30_361-14dup	NP_001245261.1:n.361-30_361-14dup