Canonical Allele Identifier: CA2579371356
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648684-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648684G>A , CM000671.2:g.34648684G>A GRCh38
NC_000009.11:g.34648681G>A , CM000671.1:g.34648681G>A GRCh37
NC_000009.10:g.34638681G>A NCBI36
NG_009029.1:g.7047G>A
NG_028966.1:g.1500G>A
NG_009029.2:g.7096G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*276-78G>A ENSP00000509954.1:n.*276-78G>A
ENST00000378842.8:c.688-78G>A MANE Select ENSP00000368119.4:n.688-78G>A
ENST00000378842.7:c.688-78G>A ENSP00000368119.3:n.688-78G>A
ENST00000450095.6:c.361-78G>A ENSP00000401956.2:n.361-78G>A
ENST00000473506.6:c.*276-78G>A ENSP00000432839.2:n.*276-78G>A
ENST00000473529.5:n.847-78G>A
ENST00000487381.5:n.1300G>A
ENST00000489643.6:n.690G>A
ENST00000554085.5:c.*432-78G>A ENSP00000450419.1:n.*432-78G>A
ENST00000554550.5:c.*308-78G>A ENSP00000451435.1:n.*308-78G>A
ENST00000554638.5:n.1160-78G>A
ENST00000555020.5:n.1071G>A
ENST00000555086.5:n.692-78G>A
ENST00000555754.1:n.33-78G>A
ENST00000556244.1:c.675-78G>A
ENST00000556278.1:c.432+228G>A ENSP00000451792.1:n.432+228G>A
ENST00000557706.5:n.1250-78G>A
NM_000155.3:c.688-78G>A NP_000146.2:n.688-78G>A
NM_001258332.1:c.361-78G>A NP_001245261.1:n.361-78G>A
NM_000155.4:c.688-78G>A MANE Select NP_000146.2:n.688-78G>A
NM_001258332.2:c.361-78G>A NP_001245261.1:n.361-78G>A