Canonical Allele Identifier: CA373283439

Gene: GALT

Linked Data

• gnomAD v4: 9-34648784-A-C
• MyVariant Identifiers: chr9:g.34648781A>C (hg19) ; chr9:g.34648784A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648784A>C , CM000671.2:g.34648784A>C	GRCh38
NC_000009.11:g.34648781A>C , CM000671.1:g.34648781A>C	GRCh37
NC_000009.10:g.34638781A>C	NCBI36
NG_009029.1:g.7147A>C
NG_028966.1:g.1600A>C
NG_009029.2:g.7196A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*298A>C	ENSP00000509954.1:n.*298A>C
ENST00000378842.8:c.710A>C MANE Select	ENSP00000368119.4:p.Glu237Ala
ENST00000378842.7:c.710A>C	ENSP00000368119.3:p.Glu237Ala
ENST00000450095.6:c.383A>C	ENSP00000401956.2:p.Glu128Ala
ENST00000473506.6:c.*298A>C	ENSP00000432839.2:n.*298A>C
ENST00000473529.5:n.869A>C
ENST00000487381.5:n.1400A>C
ENST00000489643.6:n.790A>C
ENST00000554085.5:c.*454A>C	ENSP00000450419.1:n.*454A>C
ENST00000554550.5:c.*330A>C	ENSP00000451435.1:n.*330A>C
ENST00000554638.5:n.1182A>C
ENST00000555020.5:n.1171A>C
ENST00000555086.5:n.714A>C
ENST00000555754.1:n.55A>C
ENST00000556244.1:c.697A>C
ENST00000556278.1:c.432+328A>C	ENSP00000451792.1:n.432+328A>C
ENST00000557706.5:n.1272A>C
NM_000155.3:c.710A>C	NP_000146.2:p.Glu237Ala
NM_001258332.1:c.383A>C	NP_001245261.1:p.Glu128Ala
NM_000155.4:c.710A>C MANE Select	NP_000146.2:p.Glu237Ala
NM_001258332.2:c.383A>C	NP_001245261.1:p.Glu128Ala