Canonical Allele Identifier: CA373281569

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648145T>A (hg19) ; chr9:g.34648148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648148T>A , CM000671.2:g.34648148T>A	GRCh38
NC_000009.11:g.34648145T>A , CM000671.1:g.34648145T>A	GRCh37
NC_000009.10:g.34638145T>A	NCBI36
NG_009029.1:g.6511T>A
NG_028966.1:g.964T>A
NG_009029.2:g.6560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*129T>A	ENSP00000509954.1:n.*129T>A
ENST00000378842.8:c.541T>A MANE Select	ENSP00000368119.4:p.Ser181Thr
ENST00000378842.7:c.541T>A	ENSP00000368119.3:p.Ser181Thr
ENST00000450095.6:c.214T>A	ENSP00000401956.2:p.Ser72Thr
ENST00000465543.6:n.880T>A
ENST00000472111.5:n.797T>A
ENST00000473506.6:c.*129T>A	ENSP00000432839.2:n.*129T>A
ENST00000473529.5:n.700T>A
ENST00000485531.1:n.1135T>A
ENST00000487381.5:n.926T>A
ENST00000489643.6:n.316T>A
ENST00000554085.5:c.*285T>A	ENSP00000450419.1:n.*285T>A
ENST00000554139.5:n.787T>A
ENST00000554550.5:c.*161T>A	ENSP00000451435.1:n.*161T>A
ENST00000554638.5:n.1013T>A
ENST00000554897.5:c.*228T>A	ENSP00000450942.1:n.*228T>A
ENST00000554944.5:n.890T>A
ENST00000555020.5:n.697T>A
ENST00000555086.5:n.545T>A
ENST00000555214.5:n.362T>A
ENST00000556244.1:c.528T>A
ENST00000556278.1:c.286T>A	ENSP00000451792.1:p.Ser96Thr
ENST00000556494.5:n.662T>A
ENST00000557706.5:n.1103T>A
NM_000155.3:c.541T>A	NP_000146.2:p.Ser181Thr
NM_001258332.1:c.214T>A	NP_001245261.1:p.Ser72Thr
NM_000155.4:c.541T>A MANE Select	NP_000146.2:p.Ser181Thr
NM_001258332.2:c.214T>A	NP_001245261.1:p.Ser72Thr