Canonical Allele Identifier: CA373283457

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648783C>T (hg19) ; chr9:g.34648786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648786C>T , CM000671.2:g.34648786C>T	GRCh38
NC_000009.11:g.34648783C>T , CM000671.1:g.34648783C>T	GRCh37
NC_000009.10:g.34638783C>T	NCBI36
NG_009029.1:g.7149C>T
NG_028966.1:g.1602C>T
NG_009029.2:g.7198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*300C>T	ENSP00000509954.1:n.*300C>T
ENST00000378842.8:c.712C>T MANE Select	ENSP00000368119.4:p.His238Tyr
ENST00000378842.7:c.712C>T	ENSP00000368119.3:p.His238Tyr
ENST00000450095.6:c.385C>T	ENSP00000401956.2:p.His129Tyr
ENST00000473506.6:c.*300C>T	ENSP00000432839.2:n.*300C>T
ENST00000473529.5:n.871C>T
ENST00000487381.5:n.1402C>T
ENST00000489643.6:n.792C>T
ENST00000554085.5:c.*456C>T	ENSP00000450419.1:n.*456C>T
ENST00000554550.5:c.*332C>T	ENSP00000451435.1:n.*332C>T
ENST00000554638.5:n.1184C>T
ENST00000555020.5:n.1173C>T
ENST00000555086.5:n.716C>T
ENST00000555754.1:n.57C>T
ENST00000556244.1:c.699C>T
ENST00000556278.1:c.432+330C>T	ENSP00000451792.1:n.432+330C>T
ENST00000557706.5:n.1274C>T
NM_000155.3:c.712C>T	NP_000146.2:p.His238Tyr
NM_001258332.1:c.385C>T	NP_001245261.1:p.His129Tyr
NM_000155.4:c.712C>T MANE Select	NP_000146.2:p.His238Tyr
NM_001258332.2:c.385C>T	NP_001245261.1:p.His129Tyr