Canonical Allele Identifier: CA5036063
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs759862798

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647425_34647462del , CM000671.2:g.34647425_34647462del GRCh38
NC_000009.11:g.34647422_34647459del , CM000671.1:g.34647422_34647459del GRCh37
NC_000009.10:g.34637422_34637459del NCBI36
NG_009029.1:g.5788_5825del
NG_028966.1:g.241_278del
NG_009029.2:g.5837_5874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.253-67_253-30del ENSP00000509954.1:n.253-67_253-30del
ENST00000378842.8:c.253-67_253-30del MANE Select ENSP00000368119.4:n.253-67_253-30del
ENST00000378842.7:c.253-67_253-30del ENSP00000368119.3:n.253-67_253-30del
ENST00000450095.6:c.50+167_50+204del ENSP00000401956.2:n.50+167_50+204del
ENST00000465543.6:n.592-67_592-30del
ENST00000468099.2:n.459_496del
ENST00000472111.5:n.294-67_294-30del
ENST00000473506.6:c.253-116_253-79del ENSP00000432839.2:n.253-116_253-79del
ENST00000473529.5:n.300-67_300-30del
ENST00000485531.1:n.412_449del
ENST00000487381.5:n.445_482del
ENST00000489643.6:n.282+167_282+204del
ENST00000554085.5:c.253-50_253-13del ENSP00000450419.1:n.253-50_253-13del
ENST00000554139.5:n.306-67_306-30del
ENST00000554330.5:n.250-116_250-79del
ENST00000554550.5:c.252+167_252+204del ENSP00000451435.1:n.252+167_252+204del
ENST00000554638.5:n.443_480del
ENST00000554897.5:c.252+167_252+204del ENSP00000450942.1:n.252+167_252+204del
ENST00000554944.5:n.283-116_283-79del
ENST00000555020.5:n.283-67_283-30del
ENST00000555086.5:n.257-67_257-30del
ENST00000555214.5:n.261+167_261+204del
ENST00000556157.1:n.360-50_360-13del
ENST00000556244.1:c.173_210del
ENST00000556278.1:c.252+167_252+204del ENSP00000451792.1:n.252+167_252+204del
ENST00000556403.5:n.266-67_266-30del
ENST00000556494.5:n.285-67_285-30del
ENST00000557541.5:n.446-116_446-79del
ENST00000557706.5:n.533_570del
NM_000155.3:c.253-67_253-30del NP_000146.2:n.253-67_253-30del
NM_001258332.1:c.50+167_50+204del NP_001245261.1:n.50+167_50+204del
NM_000155.4:c.253-67_253-30del MANE Select NP_000146.2:n.253-67_253-30del
NM_001258332.2:c.50+167_50+204del NP_001245261.1:n.50+167_50+204del