Canonical Allele Identifier: CA373285064

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649502A>T (hg19) ; chr9:g.34649505A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649505A>T , CM000671.2:g.34649505A>T	GRCh38
NC_000009.11:g.34649502A>T , CM000671.1:g.34649502A>T	GRCh37
NC_000009.10:g.34639502A>T	NCBI36
NG_009029.1:g.7868A>T
NG_028966.1:g.2321A>T
NG_009029.2:g.7917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*588A>T	ENSP00000509954.1:n.*588A>T
ENST00000378842.8:c.1000A>T MANE Select	ENSP00000368119.4:p.Lys334Ter
ENST00000378842.7:c.1000A>T	ENSP00000368119.3:p.Lys334Ter
ENST00000450095.6:c.673A>T	ENSP00000401956.2:p.Lys225Ter
ENST00000488412.2:n.584A>T
ENST00000489643.6:n.1408A>T
ENST00000554550.5:c.*620A>T	ENSP00000451435.1:n.*620A>T
ENST00000554638.5:n.1472A>T
ENST00000555020.5:n.1789A>T
ENST00000555754.1:n.448A>T
ENST00000556278.1:c.432+1049A>T	ENSP00000451792.1:n.432+1049A>T
ENST00000557706.5:n.1575A>T
NM_000155.3:c.1000A>T	NP_000146.2:p.Lys334Ter
NM_001258332.1:c.673A>T	NP_001245261.1:p.Lys225Ter
NM_000155.4:c.1000A>T MANE Select	NP_000146.2:p.Lys334Ter
NM_001258332.2:c.673A>T	NP_001245261.1:p.Lys225Ter