Canonical Allele Identifier: CA373279999

Gene: GALT

Linked Data

• ClinVar Variation Id: 2428671
• ClinVar RCV Id: RCV003120272
• gnomAD v4: 9-34647541-C-G
• MyVariant Identifiers: chr9:g.34647538C>G (hg19) ; chr9:g.34647541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647541C>G , CM000671.2:g.34647541C>G	GRCh38
NC_000009.11:g.34647538C>G , CM000671.1:g.34647538C>G	GRCh37
NC_000009.10:g.34637538C>G	NCBI36
NG_009029.1:g.5904C>G
NG_028966.1:g.357C>G
NG_009029.2:g.5953C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.302C>G	ENSP00000509954.1:p.Ala101Gly
ENST00000378842.8:c.302C>G MANE Select	ENSP00000368119.4:p.Ala101Gly
ENST00000378842.7:c.302C>G	ENSP00000368119.3:p.Ala101Gly
ENST00000450095.6:c.50+283C>G	ENSP00000401956.2:n.50+283C>G
ENST00000465543.6:n.641C>G
ENST00000472111.5:n.343C>G
ENST00000473506.6:c.253C>G	ENSP00000432839.2:p.Leu85Val
ENST00000473529.5:n.349C>G
ENST00000485531.1:n.528C>G
ENST00000487381.5:n.561C>G
ENST00000489643.6:n.282+283C>G
ENST00000554085.5:c.*46C>G	ENSP00000450419.1:n.*46C>G
ENST00000554139.5:n.355C>G
ENST00000554330.5:n.250C>G
ENST00000554550.5:c.252+283C>G	ENSP00000451435.1:n.252+283C>G
ENST00000554638.5:n.559C>G
ENST00000554897.5:c.252+283C>G	ENSP00000450942.1:n.252+283C>G
ENST00000554944.5:n.283C>G
ENST00000555020.5:n.332C>G
ENST00000555086.5:n.306C>G
ENST00000555214.5:n.261+283C>G
ENST00000556157.1:n.426C>G
ENST00000556244.1:c.289C>G
ENST00000556278.1:c.252+283C>G	ENSP00000451792.1:n.252+283C>G
ENST00000556403.5:n.315C>G
ENST00000556494.5:n.334C>G
ENST00000557541.5:n.446C>G
ENST00000557706.5:n.649C>G
NM_000155.3:c.302C>G	NP_000146.2:p.Ala101Gly
NM_001258332.1:c.50+283C>G	NP_001245261.1:n.50+283C>G
NM_000155.4:c.302C>G MANE Select	NP_000146.2:p.Ala101Gly
NM_001258332.2:c.50+283C>G	NP_001245261.1:n.50+283C>G