Canonical Allele Identifier: CA2516252796
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648910A>G , CM000671.2:g.34648910A>G GRCh38
NC_000009.11:g.34648907A>G , CM000671.1:g.34648907A>G GRCh37
NC_000009.10:g.34638907A>G NCBI36
NG_009029.1:g.7273A>G
NG_028966.1:g.1726A>G
NG_009029.2:g.7322A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*408+16A>G ENSP00000509954.1:n.*408+16A>G
ENST00000378842.8:c.820+16A>G MANE Select ENSP00000368119.4:n.820+16A>G
ENST00000378842.7:c.820+16A>G ENSP00000368119.3:n.820+16A>G
ENST00000450095.6:c.493+16A>G ENSP00000401956.2:n.493+16A>G
ENST00000489643.6:n.900+16A>G
ENST00000554085.5:c.*564+16A>G ENSP00000450419.1:n.*564+16A>G
ENST00000554550.5:c.*440+16A>G ENSP00000451435.1:n.*440+16A>G
ENST00000554638.5:n.1292+16A>G
ENST00000555020.5:n.1281+16A>G
ENST00000555086.5:n.840A>G
ENST00000555754.1:n.181A>G
ENST00000556278.1:c.432+454A>G ENSP00000451792.1:n.432+454A>G
ENST00000557706.5:n.1395+3A>G
NM_000155.3:c.820+16A>G NP_000146.2:n.820+16A>G
NM_001258332.1:c.493+16A>G NP_001245261.1:n.493+16A>G
NM_000155.4:c.820+16A>G MANE Select NP_000146.2:n.820+16A>G
NM_001258332.2:c.493+16A>G NP_001245261.1:n.493+16A>G