Canonical Allele Identifier: CA2689808565

Gene: GALT

Linked Data

• gnomAD v4: 9-34647300-G-GAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647304_34647306dup , CM000671.2:g.34647304_34647306dup	GRCh38
NC_000009.11:g.34647301_34647303dup , CM000671.1:g.34647301_34647303dup	GRCh37
NC_000009.10:g.34637301_34637303dup	NCBI36
NG_009029.1:g.5667_5669dup
NG_028966.1:g.120_122dup
NG_009029.2:g.5716_5718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+46_252+48dup	ENSP00000509954.1:n.252+46_252+48dup
ENST00000378842.8:c.252+46_252+48dup MANE Select	ENSP00000368119.4:n.252+46_252+48dup
ENST00000378842.7:c.252+46_252+48dup	ENSP00000368119.3:n.252+46_252+48dup
ENST00000450095.6:c.50+46_50+48dup	ENSP00000401956.2:n.50+46_50+48dup
ENST00000465543.6:n.591+46_591+48dup
ENST00000468099.2:n.338_340dup
ENST00000472111.5:n.293+46_293+48dup
ENST00000473506.6:c.252+46_252+48dup	ENSP00000432839.2:n.252+46_252+48dup
ENST00000473529.5:n.299+46_299+48dup
ENST00000485531.1:n.291_293dup
ENST00000487381.5:n.324_326dup
ENST00000489643.6:n.282+46_282+48dup
ENST00000554085.5:c.252+46_252+48dup	ENSP00000450419.1:n.252+46_252+48dup
ENST00000554139.5:n.305+46_305+48dup
ENST00000554330.5:n.249+46_249+48dup
ENST00000554550.5:c.252+46_252+48dup	ENSP00000451435.1:n.252+46_252+48dup
ENST00000554638.5:n.322_324dup
ENST00000554897.5:c.252+46_252+48dup	ENSP00000450942.1:n.252+46_252+48dup
ENST00000554944.5:n.282+46_282+48dup
ENST00000555020.5:n.282+46_282+48dup
ENST00000555086.5:n.256+46_256+48dup
ENST00000555214.5:n.261+46_261+48dup
ENST00000556157.1:n.359+46_359+48dup
ENST00000556244.1:c.136+46_136+48dup
ENST00000556278.1:c.252+46_252+48dup	ENSP00000451792.1:n.252+46_252+48dup
ENST00000556403.5:n.265+46_265+48dup
ENST00000556494.5:n.284+46_284+48dup
ENST00000557541.5:n.445+46_445+48dup
ENST00000557706.5:n.412_414dup
NM_000155.3:c.252+46_252+48dup	NP_000146.2:n.252+46_252+48dup
NM_001258332.1:c.50+46_50+48dup	NP_001245261.1:n.50+46_50+48dup
NM_000155.4:c.252+46_252+48dup MANE Select	NP_000146.2:n.252+46_252+48dup
NM_001258332.2:c.50+46_50+48dup	NP_001245261.1:n.50+46_50+48dup