Canonical Allele Identifier: CA373284129
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648996-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648996A>T , CM000671.2:g.34648996A>T GRCh38
NC_000009.11:g.34648993A>T , CM000671.1:g.34648993A>T GRCh37
NC_000009.10:g.34638993A>T NCBI36
NG_009029.1:g.7359A>T
NG_028966.1:g.1812A>T
NG_009029.2:g.7408A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-2A>T ENSP00000509954.1:n.*409-2A>T
ENST00000378842.8:c.821-2A>T MANE Select ENSP00000368119.4:n.821-2A>T
ENST00000378842.7:c.821-2A>T ENSP00000368119.3:n.821-2A>T
ENST00000450095.6:c.494-2A>T ENSP00000401956.2:n.494-2A>T
ENST00000488412.2:n.75A>T
ENST00000489643.6:n.901-2A>T
ENST00000554085.5:c.*565-2A>T ENSP00000450419.1:n.*565-2A>T
ENST00000554550.5:c.*441-2A>T ENSP00000451435.1:n.*441-2A>T
ENST00000554638.5:n.1293-2A>T
ENST00000555020.5:n.1282-2A>T
ENST00000555086.5:n.926A>T
ENST00000555754.1:n.267A>T
ENST00000556278.1:c.432+540A>T ENSP00000451792.1:n.432+540A>T
ENST00000557706.5:n.1396-2A>T
NM_000155.3:c.821-2A>T NP_000146.2:n.821-2A>T
NM_001258332.1:c.494-2A>T NP_001245261.1:n.494-2A>T
NM_000155.4:c.821-2A>T MANE Select NP_000146.2:n.821-2A>T
NM_001258332.2:c.494-2A>T NP_001245261.1:n.494-2A>T