Canonical Allele Identifier: CA2689809484
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648754-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648754C>T , CM000671.2:g.34648754C>T GRCh38
NC_000009.11:g.34648751C>T , CM000671.1:g.34648751C>T GRCh37
NC_000009.10:g.34638751C>T NCBI36
NG_009029.1:g.7117C>T
NG_028966.1:g.1570C>T
NG_009029.2:g.7166C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*276-8C>T ENSP00000509954.1:n.*276-8C>T
ENST00000378842.8:c.688-8C>T MANE Select ENSP00000368119.4:n.688-8C>T
ENST00000378842.7:c.688-8C>T ENSP00000368119.3:n.688-8C>T
ENST00000450095.6:c.361-8C>T ENSP00000401956.2:n.361-8C>T
ENST00000473506.6:c.*276-8C>T ENSP00000432839.2:n.*276-8C>T
ENST00000473529.5:n.847-8C>T
ENST00000487381.5:n.1370C>T
ENST00000489643.6:n.760C>T
ENST00000554085.5:c.*432-8C>T ENSP00000450419.1:n.*432-8C>T
ENST00000554550.5:c.*308-8C>T ENSP00000451435.1:n.*308-8C>T
ENST00000554638.5:n.1160-8C>T
ENST00000555020.5:n.1141C>T
ENST00000555086.5:n.692-8C>T
ENST00000555754.1:n.33-8C>T
ENST00000556244.1:c.675-8C>T
ENST00000556278.1:c.432+298C>T ENSP00000451792.1:n.432+298C>T
ENST00000557706.5:n.1250-8C>T
NM_000155.3:c.688-8C>T NP_000146.2:n.688-8C>T
NM_001258332.1:c.361-8C>T NP_001245261.1:n.361-8C>T
NM_000155.4:c.688-8C>T MANE Select NP_000146.2:n.688-8C>T
NM_001258332.2:c.361-8C>T NP_001245261.1:n.361-8C>T