Canonical Allele Identifier: CA373284227

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649013A>T (hg19) ; chr9:g.34649016A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649016A>T , CM000671.2:g.34649016A>T	GRCh38
NC_000009.11:g.34649013A>T , CM000671.1:g.34649013A>T	GRCh37
NC_000009.10:g.34639013A>T	NCBI36
NG_009029.1:g.7379A>T
NG_028966.1:g.1832A>T
NG_009029.2:g.7428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*427A>T	ENSP00000509954.1:n.*427A>T
ENST00000378842.8:c.839A>T MANE Select	ENSP00000368119.4:p.Lys280Met
ENST00000378842.7:c.839A>T	ENSP00000368119.3:p.Lys280Met
ENST00000450095.6:c.512A>T	ENSP00000401956.2:p.Lys171Met
ENST00000488412.2:n.95A>T
ENST00000489643.6:n.919A>T
ENST00000554085.5:c.*583A>T	ENSP00000450419.1:n.*583A>T
ENST00000554550.5:c.*459A>T	ENSP00000451435.1:n.*459A>T
ENST00000554638.5:n.1311A>T
ENST00000555020.5:n.1300A>T
ENST00000555086.5:n.946A>T
ENST00000555754.1:n.287A>T
ENST00000556278.1:c.432+560A>T	ENSP00000451792.1:n.432+560A>T
ENST00000557706.5:n.1414A>T
NM_000155.3:c.839A>T	NP_000146.2:p.Lys280Met
NM_001258332.1:c.512A>T	NP_001245261.1:p.Lys171Met
NM_000155.4:c.839A>T MANE Select	NP_000146.2:p.Lys280Met
NM_001258332.2:c.512A>T	NP_001245261.1:p.Lys171Met