Canonical Allele Identifier: CA863494895
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1180917725
gnomAD v3: 9-34647404-C-A
gnomAD v4: 9-34647404-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647404C>A , CM000671.2:g.34647404C>A GRCh38
NC_000009.11:g.34647401C>A , CM000671.1:g.34647401C>A GRCh37
NC_000009.10:g.34637401C>A NCBI36
NG_009029.1:g.5767C>A
NG_028966.1:g.220C>A
NG_009029.2:g.5816C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.253-88C>A ENSP00000509954.1:n.253-88C>A
ENST00000378842.8:c.253-88C>A MANE Select ENSP00000368119.4:n.253-88C>A
ENST00000378842.7:c.253-88C>A ENSP00000368119.3:n.253-88C>A
ENST00000450095.6:c.50+146C>A ENSP00000401956.2:n.50+146C>A
ENST00000465543.6:n.592-88C>A
ENST00000468099.2:n.438C>A
ENST00000472111.5:n.294-88C>A
ENST00000473506.6:c.253-137C>A ENSP00000432839.2:n.253-137C>A
ENST00000473529.5:n.300-88C>A
ENST00000485531.1:n.391C>A
ENST00000487381.5:n.424C>A
ENST00000489643.6:n.282+146C>A
ENST00000554085.5:c.253-71C>A ENSP00000450419.1:n.253-71C>A
ENST00000554139.5:n.306-88C>A
ENST00000554330.5:n.250-137C>A
ENST00000554550.5:c.252+146C>A ENSP00000451435.1:n.252+146C>A
ENST00000554638.5:n.422C>A
ENST00000554897.5:c.252+146C>A ENSP00000450942.1:n.252+146C>A
ENST00000554944.5:n.283-137C>A
ENST00000555020.5:n.283-88C>A
ENST00000555086.5:n.257-88C>A
ENST00000555214.5:n.261+146C>A
ENST00000556157.1:n.360-71C>A
ENST00000556244.1:c.152C>A
ENST00000556278.1:c.252+146C>A ENSP00000451792.1:n.252+146C>A
ENST00000556403.5:n.266-88C>A
ENST00000556494.5:n.285-88C>A
ENST00000557541.5:n.446-137C>A
ENST00000557706.5:n.512C>A
NM_000155.3:c.253-88C>A NP_000146.2:n.253-88C>A
NM_001258332.1:c.50+146C>A NP_001245261.1:n.50+146C>A
NM_000155.4:c.253-88C>A MANE Select NP_000146.2:n.253-88C>A
NM_001258332.2:c.50+146C>A NP_001245261.1:n.50+146C>A