Canonical Allele Identifier: CA2580080398

Gene: GALT

Linked Data

• ClinVar Variation Id: 2004328
• ClinVar RCV Id: RCV002816026

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648418_34648422dup , CM000671.2:g.34648418_34648422dup	GRCh38
NC_000009.11:g.34648415_34648419dup , CM000671.1:g.34648415_34648419dup	GRCh37
NC_000009.10:g.34638415_34638419dup	NCBI36
NG_009029.1:g.6781_6785dup
NG_028966.1:g.1234_1238dup
NG_009029.2:g.6830_6834dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*237_*241dup	ENSP00000509954.1:n.*237_*241dup
ENST00000378842.8:c.649_653dup MANE Select	ENSP00000368119.4:p.Met219CysfsTer2
ENST00000378842.7:c.649_653dup	ENSP00000368119.3:p.Met219CysfsTer2
ENST00000450095.6:c.322_326dup	ENSP00000401956.2:p.Met110CysfsTer2
ENST00000472111.5:n.905_909dup
ENST00000473506.6:c.*237_*241dup	ENSP00000432839.2:n.*237_*241dup
ENST00000473529.5:n.808_812dup
ENST00000487381.5:n.1034_1038dup
ENST00000489643.6:n.424_428dup
ENST00000554085.5:c.*393_*397dup	ENSP00000450419.1:n.*393_*397dup
ENST00000554550.5:c.*269_*273dup	ENSP00000451435.1:n.*269_*273dup
ENST00000554638.5:n.1121_1125dup
ENST00000555020.5:n.805_809dup
ENST00000555086.5:n.653_657dup
ENST00000555214.5:n.470_474dup
ENST00000556244.1:c.636_640dup
ENST00000556278.1:c.394_398dup	ENSP00000451792.1:p.Met134CysfsTer2
ENST00000556494.5:n.770_774dup
ENST00000557706.5:n.1211_1215dup
NM_000155.3:c.649_653dup	NP_000146.2:p.Met219CysfsTer2
NM_001258332.1:c.322_326dup	NP_001245261.1:p.Met110CysfsTer2
NM_000155.4:c.649_653dup MANE Select	NP_000146.2:p.Met219CysfsTer2
NM_001258332.2:c.322_326dup	NP_001245261.1:p.Met110CysfsTer2