Canonical Allele Identifier: CA2595114217

Gene: GALT

Linked Data

• dbSNP Id: rs2132347769
• gnomAD v3: 9-34650304-TCCATGCCACCATTCTTGGCAGCC-T
• gnomAD v4: 9-34650304-TCCATGCCACCATTCTTGGCAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34650306_34650328del , CM000671.2:g.34650306_34650328del	GRCh38
NC_000009.11:g.34650303_34650325del , CM000671.1:g.34650303_34650325del	GRCh37
NC_000009.10:g.34640303_34640325del	NCBI36
NG_009029.1:g.8669_8691del
NG_028966.1:g.3122_3144del
NG_009029.2:g.8718_8740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*648-63_*648-41del	ENSP00000509954.1:n.*648-63_*648-41del
ENST00000378842.8:c.1060-63_1060-41del MANE Select	ENSP00000368119.4:n.1060-63_1060-41del
ENST00000378842.7:c.1060-63_1060-41del	ENSP00000368119.3:n.1060-63_1060-41del
ENST00000450095.6:c.733-63_733-41del	ENSP00000401956.2:n.733-63_733-41del
ENST00000488412.2:n.644-63_644-41del
ENST00000554550.5:c.*680-63_*680-41del	ENSP00000451435.1:n.*680-63_*680-41del
ENST00000554638.5:n.1532-63_1532-41del
ENST00000555754.1:n.508-63_508-41del
ENST00000556278.1:c.432+1850_432+1872del	ENSP00000451792.1:n.432+1850_432+1872del
ENST00000557706.5:n.1635-63_1635-41del
NM_000155.3:c.1060-63_1060-41del	NP_000146.2:n.1060-63_1060-41del
NM_001258332.1:c.733-63_733-41del	NP_001245261.1:n.733-63_733-41del
NM_000155.4:c.1060-63_1060-41del MANE Select	NP_000146.2:n.1060-63_1060-41del
NM_001258332.2:c.733-63_733-41del	NP_001245261.1:n.733-63_733-41del