Canonical Allele Identifier: CA2579371333

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648396del , CM000671.2:g.34648396del	GRCh38
NC_000009.11:g.34648393del , CM000671.1:g.34648393del	GRCh37
NC_000009.10:g.34638393del	NCBI36
NG_009029.1:g.6759del
NG_028966.1:g.1212del
NG_009029.2:g.6808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*215del	ENSP00000509954.1:n.*215del
ENST00000378842.8:c.627del MANE Select	ENSP00000368119.4:p.Tyr209Ter
ENST00000378842.7:c.627del	ENSP00000368119.3:p.Tyr209Ter
ENST00000450095.6:c.300del	ENSP00000401956.2:p.Tyr100Ter
ENST00000472111.5:n.883del
ENST00000473506.6:c.*215del	ENSP00000432839.2:n.*215del
ENST00000473529.5:n.786del
ENST00000487381.5:n.1012del
ENST00000489643.6:n.402del
ENST00000554085.5:c.*371del	ENSP00000450419.1:n.*371del
ENST00000554550.5:c.*247del	ENSP00000451435.1:n.*247del
ENST00000554638.5:n.1099del
ENST00000555020.5:n.783del
ENST00000555086.5:n.631del
ENST00000555214.5:n.448del
ENST00000556244.1:c.614del
ENST00000556278.1:c.372del	ENSP00000451792.1:p.Tyr124Ter
ENST00000556494.5:n.748del
ENST00000557706.5:n.1189del
NM_000155.3:c.627del	NP_000146.2:p.Tyr209Ter
NM_001258332.1:c.300del	NP_001245261.1:p.Tyr100Ter
NM_000155.4:c.627del MANE Select	NP_000146.2:p.Tyr209Ter
NM_001258332.2:c.300del	NP_001245261.1:p.Tyr100Ter