Canonical Allele Identifier: CA373280196

Gene: GALT

Linked Data

• ClinVar Variation Id: 1992665
• ClinVar RCV Id: RCV002796091
• MyVariant Identifiers: chr9:g.34647566T>G (hg19) ; chr9:g.34647569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647569T>G , CM000671.2:g.34647569T>G	GRCh38
NC_000009.11:g.34647566T>G , CM000671.1:g.34647566T>G	GRCh37
NC_000009.10:g.34637566T>G	NCBI36
NG_009029.1:g.5932T>G
NG_028966.1:g.385T>G
NG_009029.2:g.5981T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+2T>G	ENSP00000509954.1:n.328+2T>G
ENST00000378842.8:c.328+2T>G MANE Select	ENSP00000368119.4:n.328+2T>G
ENST00000378842.7:c.328+2T>G	ENSP00000368119.3:n.328+2T>G
ENST00000450095.6:c.51-263T>G	ENSP00000401956.2:n.51-263T>G
ENST00000465543.6:n.667+2T>G
ENST00000472111.5:n.371T>G
ENST00000473506.6:c.279+2T>G	ENSP00000432839.2:n.279+2T>G
ENST00000473529.5:n.377T>G
ENST00000485531.1:n.556T>G
ENST00000487381.5:n.587+2T>G
ENST00000489643.6:n.282+311T>G
ENST00000554085.5:c.*72+2T>G	ENSP00000450419.1:n.*72+2T>G
ENST00000554139.5:n.381+2T>G
ENST00000554330.5:n.278T>G
ENST00000554550.5:c.253-263T>G	ENSP00000451435.1:n.253-263T>G
ENST00000554638.5:n.587T>G
ENST00000554897.5:c.253-263T>G	ENSP00000450942.1:n.253-263T>G
ENST00000554944.5:n.311T>G
ENST00000555020.5:n.358+2T>G
ENST00000555086.5:n.332+2T>G
ENST00000555214.5:n.261+311T>G
ENST00000556157.1:n.452+2T>G
ENST00000556244.1:c.315+2T>G
ENST00000556278.1:c.252+311T>G	ENSP00000451792.1:n.252+311T>G
ENST00000556403.5:n.343T>G
ENST00000556494.5:n.362T>G
ENST00000557541.5:n.472+2T>G
ENST00000557706.5:n.677T>G
NM_000155.3:c.328+2T>G	NP_000146.2:n.328+2T>G
NM_001258332.1:c.51-263T>G	NP_001245261.1:n.51-263T>G
NM_000155.4:c.328+2T>G MANE Select	NP_000146.2:n.328+2T>G
NM_001258332.2:c.51-263T>G	NP_001245261.1:n.51-263T>G