Canonical Allele Identifier: CA373285192

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649526C>T (hg19) ; chr9:g.34649529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649529C>T , CM000671.2:g.34649529C>T	GRCh38
NC_000009.11:g.34649526C>T , CM000671.1:g.34649526C>T	GRCh37
NC_000009.10:g.34639526C>T	NCBI36
NG_009029.1:g.7892C>T
NG_028966.1:g.2345C>T
NG_009029.2:g.7941C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*612C>T	ENSP00000509954.1:n.*612C>T
ENST00000378842.8:c.1024C>T MANE Select	ENSP00000368119.4:p.Leu342Phe
ENST00000378842.7:c.1024C>T	ENSP00000368119.3:p.Leu342Phe
ENST00000450095.6:c.697C>T	ENSP00000401956.2:p.Leu233Phe
ENST00000488412.2:n.608C>T
ENST00000489643.6:n.1432C>T
ENST00000554550.5:c.*644C>T	ENSP00000451435.1:n.*644C>T
ENST00000554638.5:n.1496C>T
ENST00000555020.5:n.1813C>T
ENST00000555754.1:n.472C>T
ENST00000556278.1:c.432+1073C>T	ENSP00000451792.1:n.432+1073C>T
ENST00000557706.5:n.1599C>T
NM_000155.3:c.1024C>T	NP_000146.2:p.Leu342Phe
NM_001258332.1:c.697C>T	NP_001245261.1:p.Leu233Phe
NM_000155.4:c.1024C>T MANE Select	NP_000146.2:p.Leu342Phe
NM_001258332.2:c.697C>T	NP_001245261.1:p.Leu233Phe