Canonical Allele Identifier: CA1845637751
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1587238767
gnomAD v4: 9-34648025-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648025G>A , CM000671.2:g.34648025G>A GRCh38
NC_000009.11:g.34648022G>A , CM000671.1:g.34648022G>A GRCh37
NC_000009.10:g.34638022G>A NCBI36
NG_009029.1:g.6388G>A
NG_028966.1:g.841G>A
NG_009029.2:g.6437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*95+64G>A ENSP00000509954.1:n.*95+64G>A
ENST00000378842.8:c.507+64G>A MANE Select ENSP00000368119.4:n.507+64G>A
ENST00000378842.7:c.507+64G>A ENSP00000368119.3:n.507+64G>A
ENST00000450095.6:c.180+64G>A ENSP00000401956.2:n.180+64G>A
ENST00000465543.6:n.846+64G>A
ENST00000472111.5:n.763+64G>A
ENST00000473506.6:c.*95+64G>A ENSP00000432839.2:n.*95+64G>A
ENST00000473529.5:n.643+64G>A
ENST00000485531.1:n.1012G>A
ENST00000487381.5:n.892+64G>A
ENST00000489643.6:n.283-90G>A
ENST00000554085.5:c.*251+64G>A ENSP00000450419.1:n.*251+64G>A
ENST00000554139.5:n.687-23G>A
ENST00000554550.5:c.*127+64G>A ENSP00000451435.1:n.*127+64G>A
ENST00000554638.5:n.979+64G>A
ENST00000554897.5:c.*128-23G>A ENSP00000450942.1:n.*128-23G>A
ENST00000554944.5:n.767G>A
ENST00000555020.5:n.663+64G>A
ENST00000555086.5:n.511+64G>A
ENST00000555214.5:n.262-23G>A
ENST00000556244.1:c.494+64G>A
ENST00000556278.1:c.253-90G>A ENSP00000451792.1:n.253-90G>A
ENST00000556494.5:n.628+64G>A
ENST00000557706.5:n.1069+64G>A
NM_000155.3:c.507+64G>A NP_000146.2:n.507+64G>A
NM_001258332.1:c.180+64G>A NP_001245261.1:n.180+64G>A
NM_000155.4:c.507+64G>A MANE Select NP_000146.2:n.507+64G>A
NM_001258332.2:c.180+64G>A NP_001245261.1:n.180+64G>A