Canonical Allele Identifier: CA2689810703
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649312-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649312T>C , CM000671.2:g.34649312T>C GRCh38
NC_000009.11:g.34649309T>C , CM000671.1:g.34649309T>C GRCh37
NC_000009.10:g.34639309T>C NCBI36
NG_009029.1:g.7675T>C
NG_028966.1:g.2128T>C
NG_009029.2:g.7724T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*493-98T>C ENSP00000509954.1:n.*493-98T>C
ENST00000378842.8:c.905-98T>C MANE Select ENSP00000368119.4:n.905-98T>C
ENST00000378842.7:c.905-98T>C ENSP00000368119.3:n.905-98T>C
ENST00000450095.6:c.578-98T>C ENSP00000401956.2:n.578-98T>C
ENST00000488412.2:n.391T>C
ENST00000489643.6:n.1215T>C
ENST00000554550.5:c.*525-98T>C ENSP00000451435.1:n.*525-98T>C
ENST00000554638.5:n.1377-98T>C
ENST00000555020.5:n.1596T>C
ENST00000555754.1:n.353-98T>C
ENST00000556278.1:c.432+856T>C ENSP00000451792.1:n.432+856T>C
ENST00000557706.5:n.1480-98T>C
NM_000155.3:c.905-98T>C NP_000146.2:n.905-98T>C
NM_001258332.1:c.578-98T>C NP_001245261.1:n.578-98T>C
NM_000155.4:c.905-98T>C MANE Select NP_000146.2:n.905-98T>C
NM_001258332.2:c.578-98T>C NP_001245261.1:n.578-98T>C