Canonical Allele Identifier: CA2579371216
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647778-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647778C>G , CM000671.2:g.34647778C>G GRCh38
NC_000009.11:g.34647775C>G , CM000671.1:g.34647775C>G GRCh37
NC_000009.10:g.34637775C>G NCBI36
NG_009029.1:g.6141C>G
NG_028966.1:g.594C>G
NG_009029.2:g.6190C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.329-54C>G ENSP00000509954.1:n.329-54C>G
ENST00000378842.8:c.378-54C>G MANE Select ENSP00000368119.4:n.378-54C>G
ENST00000378842.7:c.378-54C>G ENSP00000368119.3:n.378-54C>G
ENST00000450095.6:c.51-54C>G ENSP00000401956.2:n.51-54C>G
ENST00000465543.6:n.717-54C>G
ENST00000472111.5:n.580C>G
ENST00000473506.6:c.329-54C>G ENSP00000432839.2:n.329-54C>G
ENST00000473529.5:n.514-54C>G
ENST00000485531.1:n.765C>G
ENST00000487381.5:n.709C>G
ENST00000489643.6:n.283-337C>G
ENST00000554085.5:c.*122-54C>G ENSP00000450419.1:n.*122-54C>G
ENST00000554139.5:n.503C>G
ENST00000554330.5:n.487C>G
ENST00000554550.5:c.253-54C>G ENSP00000451435.1:n.253-54C>G
ENST00000554638.5:n.796C>G
ENST00000554897.5:c.253-54C>G ENSP00000450942.1:n.253-54C>G
ENST00000554944.5:n.520C>G
ENST00000555020.5:n.480C>G
ENST00000555086.5:n.382-54C>G
ENST00000555214.5:n.262-270C>G
ENST00000556244.1:c.365-54C>G
ENST00000556278.1:c.253-337C>G ENSP00000451792.1:n.253-337C>G
ENST00000556403.5:n.552C>G
ENST00000556494.5:n.499-54C>G
ENST00000557541.5:n.522-54C>G
ENST00000557706.5:n.886C>G
NM_000155.3:c.378-54C>G NP_000146.2:n.378-54C>G
NM_001258332.1:c.51-54C>G NP_001245261.1:n.51-54C>G
NM_000155.4:c.378-54C>G MANE Select NP_000146.2:n.378-54C>G
NM_001258332.2:c.51-54C>G NP_001245261.1:n.51-54C>G