Canonical Allele Identifier: CA2689810763
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649353-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649353A>T , CM000671.2:g.34649353A>T GRCh38
NC_000009.11:g.34649350A>T , CM000671.1:g.34649350A>T GRCh37
NC_000009.10:g.34639350A>T NCBI36
NG_009029.1:g.7716A>T
NG_028966.1:g.2169A>T
NG_009029.2:g.7765A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-57A>T ENSP00000509954.1:n.*493-57A>T
ENST00000378842.8:c.905-57A>T MANE Select ENSP00000368119.4:n.905-57A>T
ENST00000378842.7:c.905-57A>T ENSP00000368119.3:n.905-57A>T
ENST00000450095.6:c.578-57A>T ENSP00000401956.2:n.578-57A>T
ENST00000488412.2:n.432A>T
ENST00000489643.6:n.1256A>T
ENST00000554550.5:c.*525-57A>T ENSP00000451435.1:n.*525-57A>T
ENST00000554638.5:n.1377-57A>T
ENST00000555020.5:n.1637A>T
ENST00000555754.1:n.353-57A>T
ENST00000556278.1:c.432+897A>T ENSP00000451792.1:n.432+897A>T
ENST00000557706.5:n.1480-57A>T
NM_000155.3:c.905-57A>T NP_000146.2:n.905-57A>T
NM_001258332.1:c.578-57A>T NP_001245261.1:n.578-57A>T
NM_000155.4:c.905-57A>T MANE Select NP_000146.2:n.905-57A>T
NM_001258332.2:c.578-57A>T NP_001245261.1:n.578-57A>T