Canonical Allele Identifier: CA373282219

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648416T>A (hg19) ; chr9:g.34648419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648419T>A , CM000671.2:g.34648419T>A	GRCh38
NC_000009.11:g.34648416T>A , CM000671.1:g.34648416T>A	GRCh37
NC_000009.10:g.34638416T>A	NCBI36
NG_009029.1:g.6782T>A
NG_028966.1:g.1235T>A
NG_009029.2:g.6831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*238T>A	ENSP00000509954.1:n.*238T>A
ENST00000378842.8:c.650T>A MANE Select	ENSP00000368119.4:p.Leu217Gln
ENST00000378842.7:c.650T>A	ENSP00000368119.3:p.Leu217Gln
ENST00000450095.6:c.323T>A	ENSP00000401956.2:p.Leu108Gln
ENST00000472111.5:n.906T>A
ENST00000473506.6:c.*238T>A	ENSP00000432839.2:n.*238T>A
ENST00000473529.5:n.809T>A
ENST00000487381.5:n.1035T>A
ENST00000489643.6:n.425T>A
ENST00000554085.5:c.*394T>A	ENSP00000450419.1:n.*394T>A
ENST00000554550.5:c.*270T>A	ENSP00000451435.1:n.*270T>A
ENST00000554638.5:n.1122T>A
ENST00000555020.5:n.806T>A
ENST00000555086.5:n.654T>A
ENST00000555214.5:n.471T>A
ENST00000556244.1:c.637T>A
ENST00000556278.1:c.395T>A	ENSP00000451792.1:p.Leu132Gln
ENST00000556494.5:n.771T>A
ENST00000557706.5:n.1212T>A
NM_000155.3:c.650T>A	NP_000146.2:p.Leu217Gln
NM_001258332.1:c.323T>A	NP_001245261.1:p.Leu108Gln
NM_000155.4:c.650T>A MANE Select	NP_000146.2:p.Leu217Gln
NM_001258332.2:c.323T>A	NP_001245261.1:p.Leu108Gln