Canonical Allele Identifier: CA373283649

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648805T>G (hg19) ; chr9:g.34648808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648808T>G , CM000671.2:g.34648808T>G	GRCh38
NC_000009.11:g.34648805T>G , CM000671.1:g.34648805T>G	GRCh37
NC_000009.10:g.34638805T>G	NCBI36
NG_009029.1:g.7171T>G
NG_028966.1:g.1624T>G
NG_009029.2:g.7220T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*322T>G	ENSP00000509954.1:n.*322T>G
ENST00000378842.8:c.734T>G MANE Select	ENSP00000368119.4:p.Phe245Cys
ENST00000378842.7:c.734T>G	ENSP00000368119.3:p.Phe245Cys
ENST00000450095.6:c.407T>G	ENSP00000401956.2:p.Phe136Cys
ENST00000473506.6:c.*322T>G	ENSP00000432839.2:n.*322T>G
ENST00000473529.5:n.893T>G
ENST00000487381.5:n.1424T>G
ENST00000489643.6:n.814T>G
ENST00000554085.5:c.*478T>G	ENSP00000450419.1:n.*478T>G
ENST00000554550.5:c.*354T>G	ENSP00000451435.1:n.*354T>G
ENST00000554638.5:n.1206T>G
ENST00000555020.5:n.1195T>G
ENST00000555086.5:n.738T>G
ENST00000555754.1:n.79T>G
ENST00000556244.1:c.721T>G
ENST00000556278.1:c.432+352T>G	ENSP00000451792.1:n.432+352T>G
ENST00000557706.5:n.1296T>G
NM_000155.3:c.734T>G	NP_000146.2:p.Phe245Cys
NM_001258332.1:c.407T>G	NP_001245261.1:p.Phe136Cys
NM_000155.4:c.734T>G MANE Select	NP_000146.2:p.Phe245Cys
NM_001258332.2:c.407T>G	NP_001245261.1:p.Phe136Cys