Canonical Allele Identifier: CA373280392

Gene: GALT

Linked Data

• gnomAD v4: 9-34647684-C-G
• MyVariant Identifiers: chr9:g.34647681C>G (hg19) ; chr9:g.34647684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647684C>G , CM000671.2:g.34647684C>G	GRCh38
NC_000009.11:g.34647681C>G , CM000671.1:g.34647681C>G	GRCh37
NC_000009.10:g.34637681C>G	NCBI36
NG_009029.1:g.6047C>G
NG_028966.1:g.500C>G
NG_009029.2:g.6096C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+117C>G	ENSP00000509954.1:n.328+117C>G
ENST00000378842.8:c.356C>G MANE Select	ENSP00000368119.4:p.Ala119Gly
ENST00000378842.7:c.356C>G	ENSP00000368119.3:p.Ala119Gly
ENST00000450095.6:c.51-148C>G	ENSP00000401956.2:n.51-148C>G
ENST00000465543.6:n.695C>G
ENST00000472111.5:n.486C>G
ENST00000473506.6:c.307C>G	ENSP00000432839.2:p.Gln103Glu
ENST00000473529.5:n.492C>G
ENST00000485531.1:n.671C>G
ENST00000487381.5:n.615C>G
ENST00000489643.6:n.282+426C>G
ENST00000554085.5:c.*100C>G	ENSP00000450419.1:n.*100C>G
ENST00000554139.5:n.409C>G
ENST00000554330.5:n.393C>G
ENST00000554550.5:c.253-148C>G	ENSP00000451435.1:n.253-148C>G
ENST00000554638.5:n.702C>G
ENST00000554897.5:c.253-148C>G	ENSP00000450942.1:n.253-148C>G
ENST00000554944.5:n.426C>G
ENST00000555020.5:n.386C>G
ENST00000555086.5:n.360C>G
ENST00000555214.5:n.262-364C>G
ENST00000556157.1:n.480C>G
ENST00000556244.1:c.343C>G
ENST00000556278.1:c.252+426C>G	ENSP00000451792.1:n.252+426C>G
ENST00000556403.5:n.458C>G
ENST00000556494.5:n.477C>G
ENST00000557541.5:n.500C>G
ENST00000557706.5:n.792C>G
NM_000155.3:c.356C>G	NP_000146.2:p.Ala119Gly
NM_001258332.1:c.51-148C>G	NP_001245261.1:n.51-148C>G
NM_000155.4:c.356C>G MANE Select	NP_000146.2:p.Ala119Gly
NM_001258332.2:c.51-148C>G	NP_001245261.1:n.51-148C>G