Canonical Allele Identifier: CA373283371

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648772T>A (hg19) ; chr9:g.34648775T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648775T>A , CM000671.2:g.34648775T>A	GRCh38
NC_000009.11:g.34648772T>A , CM000671.1:g.34648772T>A	GRCh37
NC_000009.10:g.34638772T>A	NCBI36
NG_009029.1:g.7138T>A
NG_028966.1:g.1591T>A
NG_009029.2:g.7187T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*289T>A	ENSP00000509954.1:n.*289T>A
ENST00000378842.8:c.701T>A MANE Select	ENSP00000368119.4:p.Leu234Gln
ENST00000378842.7:c.701T>A	ENSP00000368119.3:p.Leu234Gln
ENST00000450095.6:c.374T>A	ENSP00000401956.2:p.Leu125Gln
ENST00000473506.6:c.*289T>A	ENSP00000432839.2:n.*289T>A
ENST00000473529.5:n.860T>A
ENST00000487381.5:n.1391T>A
ENST00000489643.6:n.781T>A
ENST00000554085.5:c.*445T>A	ENSP00000450419.1:n.*445T>A
ENST00000554550.5:c.*321T>A	ENSP00000451435.1:n.*321T>A
ENST00000554638.5:n.1173T>A
ENST00000555020.5:n.1162T>A
ENST00000555086.5:n.705T>A
ENST00000555754.1:n.46T>A
ENST00000556244.1:c.688T>A
ENST00000556278.1:c.432+319T>A	ENSP00000451792.1:n.432+319T>A
ENST00000557706.5:n.1263T>A
NM_000155.3:c.701T>A	NP_000146.2:p.Leu234Gln
NM_001258332.1:c.374T>A	NP_001245261.1:p.Leu125Gln
NM_000155.4:c.701T>A MANE Select	NP_000146.2:p.Leu234Gln
NM_001258332.2:c.374T>A	NP_001245261.1:p.Leu125Gln