Canonical Allele Identifier: CA2689808870

Gene: GALT

Linked Data

• gnomAD v4: 9-34648400-A-AGTCAGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648402_34648409dup , CM000671.2:g.34648402_34648409dup	GRCh38
NC_000009.11:g.34648399_34648406dup , CM000671.1:g.34648399_34648406dup	GRCh37
NC_000009.10:g.34638399_34638406dup	NCBI36
NG_009029.1:g.6765_6772dup
NG_028966.1:g.1218_1225dup
NG_009029.2:g.6814_6821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*221_*228dup	ENSP00000509954.1:n.*221_*228dup
ENST00000378842.8:c.633_640dup MANE Select	ENSP00000368119.4:p.Gly214ValfsTer8
ENST00000378842.7:c.633_640dup	ENSP00000368119.3:p.Gly214ValfsTer8
ENST00000450095.6:c.306_313dup	ENSP00000401956.2:p.Gly105ValfsTer8
ENST00000472111.5:n.889_896dup
ENST00000473506.6:c.*221_*228dup	ENSP00000432839.2:n.*221_*228dup
ENST00000473529.5:n.792_799dup
ENST00000487381.5:n.1018_1025dup
ENST00000489643.6:n.408_415dup
ENST00000554085.5:c.*377_*384dup	ENSP00000450419.1:n.*377_*384dup
ENST00000554550.5:c.*253_*260dup	ENSP00000451435.1:n.*253_*260dup
ENST00000554638.5:n.1105_1112dup
ENST00000555020.5:n.789_796dup
ENST00000555086.5:n.637_644dup
ENST00000555214.5:n.454_461dup
ENST00000556244.1:c.620_627dup
ENST00000556278.1:c.378_385dup	ENSP00000451792.1:p.Gly129ValfsTer8
ENST00000556494.5:n.754_761dup
ENST00000557706.5:n.1195_1202dup
NM_000155.3:c.633_640dup	NP_000146.2:p.Gly214ValfsTer8
NM_001258332.1:c.306_313dup	NP_001245261.1:p.Gly105ValfsTer8
NM_000155.4:c.633_640dup MANE Select	NP_000146.2:p.Gly214ValfsTer8
NM_001258332.2:c.306_313dup	NP_001245261.1:p.Gly105ValfsTer8