Canonical Allele Identifier: CA587568379
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1445246189
gnomAD v2: 9-34649386-T-G
gnomAD v4: 9-34649389-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649389T>G , CM000671.2:g.34649389T>G GRCh38
NC_000009.11:g.34649386T>G , CM000671.1:g.34649386T>G GRCh37
NC_000009.10:g.34639386T>G NCBI36
NG_009029.1:g.7752T>G
NG_028966.1:g.2205T>G
NG_009029.2:g.7801T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-21T>G ENSP00000509954.1:n.*493-21T>G
ENST00000378842.8:c.905-21T>G MANE Select ENSP00000368119.4:n.905-21T>G
ENST00000378842.7:c.905-21T>G ENSP00000368119.3:n.905-21T>G
ENST00000450095.6:c.578-21T>G ENSP00000401956.2:n.578-21T>G
ENST00000488412.2:n.468T>G
ENST00000489643.6:n.1292T>G
ENST00000554550.5:c.*525-21T>G ENSP00000451435.1:n.*525-21T>G
ENST00000554638.5:n.1377-21T>G
ENST00000555020.5:n.1673T>G
ENST00000555754.1:n.353-21T>G
ENST00000556278.1:c.432+933T>G ENSP00000451792.1:n.432+933T>G
ENST00000557706.5:n.1480-21T>G
NM_000155.3:c.905-21T>G NP_000146.2:n.905-21T>G
NM_001258332.1:c.578-21T>G NP_001245261.1:n.578-21T>G
NM_000155.4:c.905-21T>G MANE Select NP_000146.2:n.905-21T>G
NM_001258332.2:c.578-21T>G NP_001245261.1:n.578-21T>G