Canonical Allele Identifier: CA2573144592

Gene: GALT

Linked Data

• ClinVar Variation Id: 1360292
• ClinVar RCV Id: RCV001904815
• dbSNP Id: rs2132344399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648453del , CM000671.2:g.34648453del	GRCh38
NC_000009.11:g.34648450del , CM000671.1:g.34648450del	GRCh37
NC_000009.10:g.34638450del	NCBI36
NG_009029.1:g.6816del
NG_028966.1:g.1269del
NG_009029.2:g.6865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*272del	ENSP00000509954.1:n.*272del
ENST00000378842.8:c.684del MANE Select	ENSP00000368119.4:p.Lys229ArgfsTer6
ENST00000378842.7:c.684del	ENSP00000368119.3:p.Lys229ArgfsTer6
ENST00000450095.6:c.357del	ENSP00000401956.2:p.Lys120ArgfsTer6
ENST00000472111.5:n.940del
ENST00000473506.6:c.*272del	ENSP00000432839.2:n.*272del
ENST00000473529.5:n.843del
ENST00000487381.5:n.1069del
ENST00000489643.6:n.459del
ENST00000554085.5:c.*428del	ENSP00000450419.1:n.*428del
ENST00000554550.5:c.*304del	ENSP00000451435.1:n.*304del
ENST00000554638.5:n.1156del
ENST00000555020.5:n.840del
ENST00000555086.5:n.688del
ENST00000555214.5:n.505del
ENST00000555754.1:n.29del
ENST00000556244.1:c.671del
ENST00000556278.1:c.429del	ENSP00000451792.1:p.Lys144ArgfsTer2
ENST00000556494.5:n.805del
ENST00000557706.5:n.1246del
NM_000155.3:c.684del	NP_000146.2:p.Lys229ArgfsTer6
NM_001258332.1:c.357del	NP_001245261.1:p.Lys120ArgfsTer6
NM_000155.4:c.684del MANE Select	NP_000146.2:p.Lys229ArgfsTer6
NM_001258332.2:c.357del	NP_001245261.1:p.Lys120ArgfsTer6