Canonical Allele Identifier: CA1845641197
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649456_34649457delinsGC , CM000671.2:g.34649456_34649457delinsGC GRCh38
NC_000009.11:g.34649453_34649454delinsGC , CM000671.1:g.34649453_34649454delinsGC GRCh37
NC_000009.10:g.34639453_34639454delinsGC NCBI36
NG_009029.1:g.7819_7820delinsGC
NG_028966.1:g.2272_2273delinsGC
NG_009029.2:g.7868_7869delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*539_*540delinsGC ENSP00000509954.1:n.*539_*540delinsGC
ENST00000378842.8:c.951_952delinsGC MANE Select ENSP00000368119.4:p.Gln317=
ENST00000378842.7:c.951_952delinsGC ENSP00000368119.3:p.Gln317=
ENST00000450095.6:c.624_625delinsGC ENSP00000401956.2:p.Gln208=
ENST00000488412.2:n.535_536delinsGC
ENST00000489643.6:n.1359_1360delinsGC
ENST00000554550.5:c.*571_*572delinsGC ENSP00000451435.1:n.*571_*572delinsGC
ENST00000554638.5:n.1423_1424delinsGC
ENST00000555020.5:n.1740_1741delinsGC
ENST00000555754.1:n.399_400delinsGC
ENST00000556278.1:c.432+1000_432+1001delinsGC ENSP00000451792.1:n.432+1000_432+1001deli...
ENST00000557706.5:n.1526_1527delinsGC
NM_000155.3:c.951_952delinsGC NP_000146.2:p.Gln317=
NM_001258332.1:c.624_625delinsGC NP_001245261.1:p.Gln208=
NM_000155.4:c.951_952delinsGC MANE Select NP_000146.2:p.Gln317=
NM_001258332.2:c.624_625delinsGC NP_001245261.1:p.Gln208=