Canonical Allele Identifier: CA373280905

Gene: GALT

Linked Data

• gnomAD v4: 9-34647910-T-G
• MyVariant Identifiers: chr9:g.34647907T>G (hg19) ; chr9:g.34647910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647910T>G , CM000671.2:g.34647910T>G	GRCh38
NC_000009.11:g.34647907T>G , CM000671.1:g.34647907T>G	GRCh37
NC_000009.10:g.34637907T>G	NCBI36
NG_009029.1:g.6273T>G
NG_028966.1:g.726T>G
NG_009029.2:g.6322T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*44T>G	ENSP00000509954.1:n.*44T>G
ENST00000378842.8:c.456T>G MANE Select	ENSP00000368119.4:p.Asp152Glu
ENST00000378842.7:c.456T>G	ENSP00000368119.3:p.Asp152Glu
ENST00000450095.6:c.129T>G	ENSP00000401956.2:p.Asp43Glu
ENST00000465543.6:n.795T>G
ENST00000472111.5:n.712T>G
ENST00000473506.6:c.*44T>G	ENSP00000432839.2:n.*44T>G
ENST00000473529.5:n.592T>G
ENST00000485531.1:n.897T>G
ENST00000487381.5:n.841T>G
ENST00000489643.6:n.283-205T>G
ENST00000554085.5:c.*200T>G	ENSP00000450419.1:n.*200T>G
ENST00000554139.5:n.635T>G
ENST00000554550.5:c.*76T>G	ENSP00000451435.1:n.*76T>G
ENST00000554638.5:n.928T>G
ENST00000554897.5:c.*76T>G	ENSP00000450942.1:n.*76T>G
ENST00000554944.5:n.652T>G
ENST00000555020.5:n.612T>G
ENST00000555086.5:n.460T>G
ENST00000555214.5:n.262-138T>G
ENST00000556244.1:c.443T>G
ENST00000556278.1:c.253-205T>G	ENSP00000451792.1:n.253-205T>G
ENST00000556494.5:n.577T>G
ENST00000557706.5:n.1018T>G
NM_000155.3:c.456T>G	NP_000146.2:p.Asp152Glu
NM_001258332.1:c.129T>G	NP_001245261.1:p.Asp43Glu
NM_000155.4:c.456T>G MANE Select	NP_000146.2:p.Asp152Glu
NM_001258332.2:c.129T>G	NP_001245261.1:p.Asp43Glu