Canonical Allele Identifier: CA373283854

Gene: GALT

Linked Data

• gnomAD v4: 9-34648835-T-A
• MyVariant Identifiers: chr9:g.34648832T>A (hg19) ; chr9:g.34648835T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648835T>A , CM000671.2:g.34648835T>A	GRCh38
NC_000009.11:g.34648832T>A , CM000671.1:g.34648832T>A	GRCh37
NC_000009.10:g.34638832T>A	NCBI36
NG_009029.1:g.7198T>A
NG_028966.1:g.1651T>A
NG_009029.2:g.7247T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*349T>A	ENSP00000509954.1:n.*349T>A
ENST00000378842.8:c.761T>A MANE Select	ENSP00000368119.4:p.Leu254Gln
ENST00000378842.7:c.761T>A	ENSP00000368119.3:p.Leu254Gln
ENST00000450095.6:c.434T>A	ENSP00000401956.2:p.Leu145Gln
ENST00000473506.6:c.*349T>A	ENSP00000432839.2:n.*349T>A
ENST00000489643.6:n.841T>A
ENST00000554085.5:c.*505T>A	ENSP00000450419.1:n.*505T>A
ENST00000554550.5:c.*381T>A	ENSP00000451435.1:n.*381T>A
ENST00000554638.5:n.1233T>A
ENST00000555020.5:n.1222T>A
ENST00000555086.5:n.765T>A
ENST00000555754.1:n.106T>A
ENST00000556244.1:c.748T>A
ENST00000556278.1:c.432+379T>A	ENSP00000451792.1:n.432+379T>A
ENST00000557706.5:n.1323T>A
NM_000155.3:c.761T>A	NP_000146.2:p.Leu254Gln
NM_001258332.1:c.434T>A	NP_001245261.1:p.Leu145Gln
NM_000155.4:c.761T>A MANE Select	NP_000146.2:p.Leu254Gln
NM_001258332.2:c.434T>A	NP_001245261.1:p.Leu145Gln