Canonical Allele Identifier: CA2689809355
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648686-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648686T>C , CM000671.2:g.34648686T>C GRCh38
NC_000009.11:g.34648683T>C , CM000671.1:g.34648683T>C GRCh37
NC_000009.10:g.34638683T>C NCBI36
NG_009029.1:g.7049T>C
NG_028966.1:g.1502T>C
NG_009029.2:g.7098T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*276-76T>C ENSP00000509954.1:n.*276-76T>C
ENST00000378842.8:c.688-76T>C MANE Select ENSP00000368119.4:n.688-76T>C
ENST00000378842.7:c.688-76T>C ENSP00000368119.3:n.688-76T>C
ENST00000450095.6:c.361-76T>C ENSP00000401956.2:n.361-76T>C
ENST00000473506.6:c.*276-76T>C ENSP00000432839.2:n.*276-76T>C
ENST00000473529.5:n.847-76T>C
ENST00000487381.5:n.1302T>C
ENST00000489643.6:n.692T>C
ENST00000554085.5:c.*432-76T>C ENSP00000450419.1:n.*432-76T>C
ENST00000554550.5:c.*308-76T>C ENSP00000451435.1:n.*308-76T>C
ENST00000554638.5:n.1160-76T>C
ENST00000555020.5:n.1073T>C
ENST00000555086.5:n.692-76T>C
ENST00000555754.1:n.33-76T>C
ENST00000556244.1:c.675-76T>C
ENST00000556278.1:c.432+230T>C ENSP00000451792.1:n.432+230T>C
ENST00000557706.5:n.1250-76T>C
NM_000155.3:c.688-76T>C NP_000146.2:n.688-76T>C
NM_001258332.1:c.361-76T>C NP_001245261.1:n.361-76T>C
NM_000155.4:c.688-76T>C MANE Select NP_000146.2:n.688-76T>C
NM_001258332.2:c.361-76T>C NP_001245261.1:n.361-76T>C