Canonical Allele Identifier: CA373281370

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648120A>T (hg19) ; chr9:g.34648123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648123A>T , CM000671.2:g.34648123A>T	GRCh38
NC_000009.11:g.34648120A>T , CM000671.1:g.34648120A>T	GRCh37
NC_000009.10:g.34638120A>T	NCBI36
NG_009029.1:g.6486A>T
NG_028966.1:g.939A>T
NG_009029.2:g.6535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*104A>T	ENSP00000509954.1:n.*104A>T
ENST00000378842.8:c.516A>T MANE Select	ENSP00000368119.4:p.Glu172Asp
ENST00000378842.7:c.516A>T	ENSP00000368119.3:p.Glu172Asp
ENST00000450095.6:c.189A>T	ENSP00000401956.2:p.Glu63Asp
ENST00000465543.6:n.855A>T
ENST00000472111.5:n.772A>T
ENST00000473506.6:c.*104A>T	ENSP00000432839.2:n.*104A>T
ENST00000473529.5:n.675A>T
ENST00000485531.1:n.1110A>T
ENST00000487381.5:n.901A>T
ENST00000489643.6:n.291A>T
ENST00000554085.5:c.*260A>T	ENSP00000450419.1:n.*260A>T
ENST00000554139.5:n.762A>T
ENST00000554550.5:c.*136A>T	ENSP00000451435.1:n.*136A>T
ENST00000554638.5:n.988A>T
ENST00000554897.5:c.*203A>T	ENSP00000450942.1:n.*203A>T
ENST00000554944.5:n.865A>T
ENST00000555020.5:n.672A>T
ENST00000555086.5:n.520A>T
ENST00000555214.5:n.337A>T
ENST00000556244.1:c.503A>T
ENST00000556278.1:c.261A>T	ENSP00000451792.1:p.Glu87Asp
ENST00000556494.5:n.637A>T
ENST00000557706.5:n.1078A>T
NM_000155.3:c.516A>T	NP_000146.2:p.Glu172Asp
NM_001258332.1:c.189A>T	NP_001245261.1:p.Glu63Asp
NM_000155.4:c.516A>T MANE Select	NP_000146.2:p.Glu172Asp
NM_001258332.2:c.189A>T	NP_001245261.1:p.Glu63Asp