Canonical Allele Identifier: CA2579371366
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648708-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648708A>G , CM000671.2:g.34648708A>G GRCh38
NC_000009.11:g.34648705A>G , CM000671.1:g.34648705A>G GRCh37
NC_000009.10:g.34638705A>G NCBI36
NG_009029.1:g.7071A>G
NG_028966.1:g.1524A>G
NG_009029.2:g.7120A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*276-54A>G ENSP00000509954.1:n.*276-54A>G
ENST00000378842.8:c.688-54A>G MANE Select ENSP00000368119.4:n.688-54A>G
ENST00000378842.7:c.688-54A>G ENSP00000368119.3:n.688-54A>G
ENST00000450095.6:c.361-54A>G ENSP00000401956.2:n.361-54A>G
ENST00000473506.6:c.*276-54A>G ENSP00000432839.2:n.*276-54A>G
ENST00000473529.5:n.847-54A>G
ENST00000487381.5:n.1324A>G
ENST00000489643.6:n.714A>G
ENST00000554085.5:c.*432-54A>G ENSP00000450419.1:n.*432-54A>G
ENST00000554550.5:c.*308-54A>G ENSP00000451435.1:n.*308-54A>G
ENST00000554638.5:n.1160-54A>G
ENST00000555020.5:n.1095A>G
ENST00000555086.5:n.692-54A>G
ENST00000555754.1:n.33-54A>G
ENST00000556244.1:c.675-54A>G
ENST00000556278.1:c.432+252A>G ENSP00000451792.1:n.432+252A>G
ENST00000557706.5:n.1250-54A>G
NM_000155.3:c.688-54A>G NP_000146.2:n.688-54A>G
NM_001258332.1:c.361-54A>G NP_001245261.1:n.361-54A>G
NM_000155.4:c.688-54A>G MANE Select NP_000146.2:n.688-54A>G
NM_001258332.2:c.361-54A>G NP_001245261.1:n.361-54A>G