Canonical Allele Identifier: CA1845639380
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821172779
gnomAD v4: 9-34648690-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648690C>A , CM000671.2:g.34648690C>A GRCh38
NC_000009.11:g.34648687C>A , CM000671.1:g.34648687C>A GRCh37
NC_000009.10:g.34638687C>A NCBI36
NG_009029.1:g.7053C>A
NG_028966.1:g.1506C>A
NG_009029.2:g.7102C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*276-72C>A ENSP00000509954.1:n.*276-72C>A
ENST00000378842.8:c.688-72C>A MANE Select ENSP00000368119.4:n.688-72C>A
ENST00000378842.7:c.688-72C>A ENSP00000368119.3:n.688-72C>A
ENST00000450095.6:c.361-72C>A ENSP00000401956.2:n.361-72C>A
ENST00000473506.6:c.*276-72C>A ENSP00000432839.2:n.*276-72C>A
ENST00000473529.5:n.847-72C>A
ENST00000487381.5:n.1306C>A
ENST00000489643.6:n.696C>A
ENST00000554085.5:c.*432-72C>A ENSP00000450419.1:n.*432-72C>A
ENST00000554550.5:c.*308-72C>A ENSP00000451435.1:n.*308-72C>A
ENST00000554638.5:n.1160-72C>A
ENST00000555020.5:n.1077C>A
ENST00000555086.5:n.692-72C>A
ENST00000555754.1:n.33-72C>A
ENST00000556244.1:c.675-72C>A
ENST00000556278.1:c.432+234C>A ENSP00000451792.1:n.432+234C>A
ENST00000557706.5:n.1250-72C>A
NM_000155.3:c.688-72C>A NP_000146.2:n.688-72C>A
NM_001258332.1:c.361-72C>A NP_001245261.1:n.361-72C>A
NM_000155.4:c.688-72C>A MANE Select NP_000146.2:n.688-72C>A
NM_001258332.2:c.361-72C>A NP_001245261.1:n.361-72C>A