Canonical Allele Identifier: CA2689810723
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649331-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649331G>T , CM000671.2:g.34649331G>T GRCh38
NC_000009.11:g.34649328G>T , CM000671.1:g.34649328G>T GRCh37
NC_000009.10:g.34639328G>T NCBI36
NG_009029.1:g.7694G>T
NG_028966.1:g.2147G>T
NG_009029.2:g.7743G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-79G>T ENSP00000509954.1:n.*493-79G>T
ENST00000378842.8:c.905-79G>T MANE Select ENSP00000368119.4:n.905-79G>T
ENST00000378842.7:c.905-79G>T ENSP00000368119.3:n.905-79G>T
ENST00000450095.6:c.578-79G>T ENSP00000401956.2:n.578-79G>T
ENST00000488412.2:n.410G>T
ENST00000489643.6:n.1234G>T
ENST00000554550.5:c.*525-79G>T ENSP00000451435.1:n.*525-79G>T
ENST00000554638.5:n.1377-79G>T
ENST00000555020.5:n.1615G>T
ENST00000555754.1:n.353-79G>T
ENST00000556278.1:c.432+875G>T ENSP00000451792.1:n.432+875G>T
ENST00000557706.5:n.1480-79G>T
NM_000155.3:c.905-79G>T NP_000146.2:n.905-79G>T
NM_001258332.1:c.578-79G>T NP_001245261.1:n.578-79G>T
NM_000155.4:c.905-79G>T MANE Select NP_000146.2:n.905-79G>T
NM_001258332.2:c.578-79G>T NP_001245261.1:n.578-79G>T