Canonical Allele Identifier: CA2689809740
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648961-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648961T>C , CM000671.2:g.34648961T>C GRCh38
NC_000009.11:g.34648958T>C , CM000671.1:g.34648958T>C GRCh37
NC_000009.10:g.34638958T>C NCBI36
NG_009029.1:g.7324T>C
NG_028966.1:g.1777T>C
NG_009029.2:g.7373T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-37T>C ENSP00000509954.1:n.*409-37T>C
ENST00000378842.8:c.821-37T>C MANE Select ENSP00000368119.4:n.821-37T>C
ENST00000378842.7:c.821-37T>C ENSP00000368119.3:n.821-37T>C
ENST00000450095.6:c.494-37T>C ENSP00000401956.2:n.494-37T>C
ENST00000488412.2:n.40T>C
ENST00000489643.6:n.901-37T>C
ENST00000554085.5:c.*565-37T>C ENSP00000450419.1:n.*565-37T>C
ENST00000554550.5:c.*441-37T>C ENSP00000451435.1:n.*441-37T>C
ENST00000554638.5:n.1293-37T>C
ENST00000555020.5:n.1282-37T>C
ENST00000555086.5:n.891T>C
ENST00000555754.1:n.232T>C
ENST00000556278.1:c.432+505T>C ENSP00000451792.1:n.432+505T>C
ENST00000557706.5:n.1396-37T>C
NM_000155.3:c.821-37T>C NP_000146.2:n.821-37T>C
NM_001258332.1:c.494-37T>C NP_001245261.1:n.494-37T>C
NM_000155.4:c.821-37T>C MANE Select NP_000146.2:n.821-37T>C
NM_001258332.2:c.494-37T>C NP_001245261.1:n.494-37T>C