Canonical Allele Identifier: CA373283982

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648870C>G (hg19) ; chr9:g.34648873C>G (hg38)
• PubMed: PMID:25592817

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648873C>G , CM000671.2:g.34648873C>G	GRCh38
NC_000009.11:g.34648870C>G , CM000671.1:g.34648870C>G	GRCh37
NC_000009.10:g.34638870C>G	NCBI36
NG_009029.1:g.7236C>G
NG_028966.1:g.1689C>G
NG_009029.2:g.7285C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*387C>G	ENSP00000509954.1:n.*387C>G
ENST00000378842.8:c.799C>G MANE Select	ENSP00000368119.4:p.Leu267Val
ENST00000378842.7:c.799C>G	ENSP00000368119.3:p.Leu267Val
ENST00000450095.6:c.472C>G	ENSP00000401956.2:p.Leu158Val
ENST00000473506.6:c.*387C>G	ENSP00000432839.2:n.*387C>G
ENST00000489643.6:n.879C>G
ENST00000554085.5:c.*543C>G	ENSP00000450419.1:n.*543C>G
ENST00000554550.5:c.*419C>G	ENSP00000451435.1:n.*419C>G
ENST00000554638.5:n.1271C>G
ENST00000555020.5:n.1260C>G
ENST00000555086.5:n.803C>G
ENST00000555754.1:n.144C>G
ENST00000556244.1:c.786C>G
ENST00000556278.1:c.432+417C>G	ENSP00000451792.1:n.432+417C>G
ENST00000557706.5:n.1361C>G
NM_000155.3:c.799C>G	NP_000146.2:p.Leu267Val
NM_001258332.1:c.472C>G	NP_001245261.1:p.Leu158Val
NM_000155.4:c.799C>G MANE Select	NP_000146.2:p.Leu267Val
NM_001258332.2:c.472C>G	NP_001245261.1:p.Leu158Val