Canonical Allele Identifier: CA863496829
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1174673903

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648979_34648980del , CM000671.2:g.34648979_34648980del GRCh38
NC_000009.11:g.34648976_34648977del , CM000671.1:g.34648976_34648977del GRCh37
NC_000009.10:g.34638976_34638977del NCBI36
NG_009029.1:g.7342_7343del
NG_028966.1:g.1795_1796del
NG_009029.2:g.7391_7392del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-19_*409-18del ENSP00000509954.1:n.*409-19_*409-18del
ENST00000378842.8:c.821-19_821-18del MANE Select ENSP00000368119.4:n.821-19_821-18del
ENST00000378842.7:c.821-19_821-18del ENSP00000368119.3:n.821-19_821-18del
ENST00000450095.6:c.494-19_494-18del ENSP00000401956.2:n.494-19_494-18del
ENST00000488412.2:n.58_59del
ENST00000489643.6:n.901-19_901-18del
ENST00000554085.5:c.*565-19_*565-18del ENSP00000450419.1:n.*565-19_*565-18del
ENST00000554550.5:c.*441-19_*441-18del ENSP00000451435.1:n.*441-19_*441-18del
ENST00000554638.5:n.1293-19_1293-18del
ENST00000555020.5:n.1282-19_1282-18del
ENST00000555086.5:n.909_910del
ENST00000555754.1:n.250_251del
ENST00000556278.1:c.432+523_432+524del ENSP00000451792.1:n.432+523_432+524del
ENST00000557706.5:n.1396-19_1396-18del
NM_000155.3:c.821-19_821-18del NP_000146.2:n.821-19_821-18del
NM_001258332.1:c.494-19_494-18del NP_001245261.1:n.494-19_494-18del
NM_000155.4:c.821-19_821-18del MANE Select NP_000146.2:n.821-19_821-18del
NM_001258332.2:c.494-19_494-18del NP_001245261.1:n.494-19_494-18del