Canonical Allele Identifier: CA587568191

Gene: GALT

Linked Data

• dbSNP Id: rs1367789117
• gnomAD v2: 9-34647257-T-TAAGC
• gnomAD v4: 9-34647260-T-TAAGC
• MyVariant Identifiers: chr9:g.34647257_34647258insAAGC (hg19) ; chr9:g.34647260_34647261insAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647261_34647264dup , CM000671.2:g.34647261_34647264dup	GRCh38
NC_000009.11:g.34647258_34647261dup , CM000671.1:g.34647258_34647261dup	GRCh37
NC_000009.10:g.34637258_34637261dup	NCBI36
NG_009029.1:g.5624_5627dup
NG_028966.1:g.77_80dup
NG_009029.2:g.5673_5676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+3_252+6dup	ENSP00000509954.1:n.252+3_252+6dup
ENST00000378842.8:c.252+3_252+6dup MANE Select	ENSP00000368119.4:n.252+3_252+6dup
ENST00000378842.7:c.252+3_252+6dup	ENSP00000368119.3:n.252+3_252+6dup
ENST00000450095.6:c.50+3_50+6dup	ENSP00000401956.2:n.50+3_50+6dup
ENST00000465543.6:n.591+3_591+6dup
ENST00000468099.2:n.295_298dup
ENST00000472111.5:n.293+3_293+6dup
ENST00000473506.6:c.252+3_252+6dup	ENSP00000432839.2:n.252+3_252+6dup
ENST00000473529.5:n.299+3_299+6dup
ENST00000485531.1:n.248_251dup
ENST00000487381.5:n.281_284dup
ENST00000489643.6:n.282+3_282+6dup
ENST00000554085.5:c.252+3_252+6dup	ENSP00000450419.1:n.252+3_252+6dup
ENST00000554139.5:n.305+3_305+6dup
ENST00000554330.5:n.249+3_249+6dup
ENST00000554550.5:c.252+3_252+6dup	ENSP00000451435.1:n.252+3_252+6dup
ENST00000554638.5:n.279_282dup
ENST00000554897.5:c.252+3_252+6dup	ENSP00000450942.1:n.252+3_252+6dup
ENST00000554944.5:n.282+3_282+6dup
ENST00000555020.5:n.282+3_282+6dup
ENST00000555086.5:n.256+3_256+6dup
ENST00000555214.5:n.261+3_261+6dup
ENST00000556157.1:n.359+3_359+6dup
ENST00000556244.1:c.136+3_136+6dup
ENST00000556278.1:c.252+3_252+6dup	ENSP00000451792.1:n.252+3_252+6dup
ENST00000556403.5:n.265+3_265+6dup
ENST00000556494.5:n.284+3_284+6dup
ENST00000557541.5:n.445+3_445+6dup
ENST00000557706.5:n.369_372dup
NM_000155.3:c.252+3_252+6dup	NP_000146.2:n.252+3_252+6dup
NM_001258332.1:c.50+3_50+6dup	NP_001245261.1:n.50+3_50+6dup
NM_000155.4:c.252+3_252+6dup MANE Select	NP_000146.2:n.252+3_252+6dup
NM_001258332.2:c.50+3_50+6dup	NP_001245261.1:n.50+3_50+6dup