Canonical Allele Identifier: CA373283925

Gene: GALT

Linked Data

• gnomAD v4: 9-34648856-T-C
• MyVariant Identifiers: chr9:g.34648853T>C (hg19) ; chr9:g.34648856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648856T>C , CM000671.2:g.34648856T>C	GRCh38
NC_000009.11:g.34648853T>C , CM000671.1:g.34648853T>C	GRCh37
NC_000009.10:g.34638853T>C	NCBI36
NG_009029.1:g.7219T>C
NG_028966.1:g.1672T>C
NG_009029.2:g.7268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*370T>C	ENSP00000509954.1:n.*370T>C
ENST00000378842.8:c.782T>C MANE Select	ENSP00000368119.4:p.Val261Ala
ENST00000378842.7:c.782T>C	ENSP00000368119.3:p.Val261Ala
ENST00000450095.6:c.455T>C	ENSP00000401956.2:p.Val152Ala
ENST00000473506.6:c.*370T>C	ENSP00000432839.2:n.*370T>C
ENST00000489643.6:n.862T>C
ENST00000554085.5:c.*526T>C	ENSP00000450419.1:n.*526T>C
ENST00000554550.5:c.*402T>C	ENSP00000451435.1:n.*402T>C
ENST00000554638.5:n.1254T>C
ENST00000555020.5:n.1243T>C
ENST00000555086.5:n.786T>C
ENST00000555754.1:n.127T>C
ENST00000556244.1:c.769T>C
ENST00000556278.1:c.432+400T>C	ENSP00000451792.1:n.432+400T>C
ENST00000557706.5:n.1344T>C
NM_000155.3:c.782T>C	NP_000146.2:p.Val261Ala
NM_001258332.1:c.455T>C	NP_001245261.1:p.Val152Ala
NM_000155.4:c.782T>C MANE Select	NP_000146.2:p.Val261Ala
NM_001258332.2:c.455T>C	NP_001245261.1:p.Val152Ala