Canonical Allele Identifier: CA373283862

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648834C>A (hg19) ; chr9:g.34648837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648837C>A , CM000671.2:g.34648837C>A	GRCh38
NC_000009.11:g.34648834C>A , CM000671.1:g.34648834C>A	GRCh37
NC_000009.10:g.34638834C>A	NCBI36
NG_009029.1:g.7200C>A
NG_028966.1:g.1653C>A
NG_009029.2:g.7249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*351C>A	ENSP00000509954.1:n.*351C>A
ENST00000378842.8:c.763C>A MANE Select	ENSP00000368119.4:p.Leu255Met
ENST00000378842.7:c.763C>A	ENSP00000368119.3:p.Leu255Met
ENST00000450095.6:c.436C>A	ENSP00000401956.2:p.Leu146Met
ENST00000473506.6:c.*351C>A	ENSP00000432839.2:n.*351C>A
ENST00000489643.6:n.843C>A
ENST00000554085.5:c.*507C>A	ENSP00000450419.1:n.*507C>A
ENST00000554550.5:c.*383C>A	ENSP00000451435.1:n.*383C>A
ENST00000554638.5:n.1235C>A
ENST00000555020.5:n.1224C>A
ENST00000555086.5:n.767C>A
ENST00000555754.1:n.108C>A
ENST00000556244.1:c.750C>A
ENST00000556278.1:c.432+381C>A	ENSP00000451792.1:n.432+381C>A
ENST00000557706.5:n.1325C>A
NM_000155.3:c.763C>A	NP_000146.2:p.Leu255Met
NM_001258332.1:c.436C>A	NP_001245261.1:p.Leu146Met
NM_000155.4:c.763C>A MANE Select	NP_000146.2:p.Leu255Met
NM_001258332.2:c.436C>A	NP_001245261.1:p.Leu146Met