Canonical Allele Identifier: CA373283559

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648791A>C (hg19) ; chr9:g.34648794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648794A>C , CM000671.2:g.34648794A>C	GRCh38
NC_000009.11:g.34648791A>C , CM000671.1:g.34648791A>C	GRCh37
NC_000009.10:g.34638791A>C	NCBI36
NG_009029.1:g.7157A>C
NG_028966.1:g.1610A>C
NG_009029.2:g.7206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*308A>C	ENSP00000509954.1:n.*308A>C
ENST00000378842.8:c.720A>C MANE Select	ENSP00000368119.4:p.Leu240Phe
ENST00000378842.7:c.720A>C	ENSP00000368119.3:p.Leu240Phe
ENST00000450095.6:c.393A>C	ENSP00000401956.2:p.Leu131Phe
ENST00000473506.6:c.*308A>C	ENSP00000432839.2:n.*308A>C
ENST00000473529.5:n.879A>C
ENST00000487381.5:n.1410A>C
ENST00000489643.6:n.800A>C
ENST00000554085.5:c.*464A>C	ENSP00000450419.1:n.*464A>C
ENST00000554550.5:c.*340A>C	ENSP00000451435.1:n.*340A>C
ENST00000554638.5:n.1192A>C
ENST00000555020.5:n.1181A>C
ENST00000555086.5:n.724A>C
ENST00000555754.1:n.65A>C
ENST00000556244.1:c.707A>C
ENST00000556278.1:c.432+338A>C	ENSP00000451792.1:n.432+338A>C
ENST00000557706.5:n.1282A>C
NM_000155.3:c.720A>C	NP_000146.2:p.Leu240Phe
NM_001258332.1:c.393A>C	NP_001245261.1:p.Leu131Phe
NM_000155.4:c.720A>C MANE Select	NP_000146.2:p.Leu240Phe
NM_001258332.2:c.393A>C	NP_001245261.1:p.Leu131Phe