Canonical Allele Identifier: CA1845637641
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821150966
gnomAD v4: 9-34647975-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647975C>T , CM000671.2:g.34647975C>T GRCh38
NC_000009.11:g.34647972C>T , CM000671.1:g.34647972C>T GRCh37
NC_000009.10:g.34637972C>T NCBI36
NG_009029.1:g.6338C>T
NG_028966.1:g.791C>T
NG_009029.2:g.6387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*95+14C>T ENSP00000509954.1:n.*95+14C>T
ENST00000378842.8:c.507+14C>T MANE Select ENSP00000368119.4:n.507+14C>T
ENST00000378842.7:c.507+14C>T ENSP00000368119.3:n.507+14C>T
ENST00000450095.6:c.180+14C>T ENSP00000401956.2:n.180+14C>T
ENST00000465543.6:n.846+14C>T
ENST00000472111.5:n.763+14C>T
ENST00000473506.6:c.*95+14C>T ENSP00000432839.2:n.*95+14C>T
ENST00000473529.5:n.643+14C>T
ENST00000485531.1:n.962C>T
ENST00000487381.5:n.892+14C>T
ENST00000489643.6:n.283-140C>T
ENST00000554085.5:c.*251+14C>T ENSP00000450419.1:n.*251+14C>T
ENST00000554139.5:n.686+14C>T
ENST00000554550.5:c.*127+14C>T ENSP00000451435.1:n.*127+14C>T
ENST00000554638.5:n.979+14C>T
ENST00000554897.5:c.*127+14C>T ENSP00000450942.1:n.*127+14C>T
ENST00000554944.5:n.717C>T
ENST00000555020.5:n.663+14C>T
ENST00000555086.5:n.511+14C>T
ENST00000555214.5:n.262-73C>T
ENST00000556244.1:c.494+14C>T
ENST00000556278.1:c.253-140C>T ENSP00000451792.1:n.253-140C>T
ENST00000556494.5:n.628+14C>T
ENST00000557706.5:n.1069+14C>T
NM_000155.3:c.507+14C>T NP_000146.2:n.507+14C>T
NM_001258332.1:c.180+14C>T NP_001245261.1:n.180+14C>T
NM_000155.4:c.507+14C>T MANE Select NP_000146.2:n.507+14C>T
NM_001258332.2:c.180+14C>T NP_001245261.1:n.180+14C>T