Canonical Allele Identifier: CA373281782

Gene: GALT

Linked Data

• gnomAD v4: 9-34648334-G-A
• MyVariant Identifiers: chr9:g.34648331G>A (hg19) ; chr9:g.34648334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648334G>A , CM000671.2:g.34648334G>A	GRCh38
NC_000009.11:g.34648331G>A , CM000671.1:g.34648331G>A	GRCh37
NC_000009.10:g.34638331G>A	NCBI36
NG_009029.1:g.6697G>A
NG_028966.1:g.1150G>A
NG_009029.2:g.6746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*153G>A	ENSP00000509954.1:n.*153G>A
ENST00000378842.8:c.565G>A MANE Select	ENSP00000368119.4:p.Val189Ile
ENST00000378842.7:c.565G>A	ENSP00000368119.3:p.Val189Ile
ENST00000450095.6:c.238G>A	ENSP00000401956.2:p.Val80Ile
ENST00000472111.5:n.821G>A
ENST00000473506.6:c.*153G>A	ENSP00000432839.2:n.*153G>A
ENST00000473529.5:n.724G>A
ENST00000485531.1:n.1159G>A
ENST00000487381.5:n.950G>A
ENST00000489643.6:n.340G>A
ENST00000554085.5:c.*309G>A	ENSP00000450419.1:n.*309G>A
ENST00000554139.5:n.811G>A
ENST00000554550.5:c.*185G>A	ENSP00000451435.1:n.*185G>A
ENST00000554638.5:n.1037G>A
ENST00000554897.5:c.*252G>A	ENSP00000450942.1:n.*252G>A
ENST00000554944.5:n.914G>A
ENST00000555020.5:n.721G>A
ENST00000555086.5:n.569G>A
ENST00000555214.5:n.386G>A
ENST00000556244.1:c.552G>A
ENST00000556278.1:c.310G>A	ENSP00000451792.1:p.Val104Ile
ENST00000556494.5:n.686G>A
ENST00000557706.5:n.1127G>A
NM_000155.3:c.565G>A	NP_000146.2:p.Val189Ile
NM_001258332.1:c.238G>A	NP_001245261.1:p.Val80Ile
NM_000155.4:c.565G>A MANE Select	NP_000146.2:p.Val189Ile
NM_001258332.2:c.238G>A	NP_001245261.1:p.Val80Ile