Canonical Allele Identifier: CA5036205

Gene: GALT

Linked Data

• ClinVar Variation Id: 371396
• ClinVar RCV Id: RCV000410683 ; RCV003480624
• dbSNP Id: rs747036550
• ExAC: 9:34648831 C / CT
• gnomAD v2: 9-34648831-C-CT
• gnomAD v4: 9-34648834-C-CT
• MyVariant Identifiers: chr9:g.34648832dupT (hg19) ; chr9:g.34648831_34648832insT (hg19) ; chr9:g.34648835dupT (hg38) ; chr9:g.34648834_34648835insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648835dup , CM000671.2:g.34648835dup	GRCh38
NC_000009.11:g.34648832dup , CM000671.1:g.34648832dup	GRCh37
NC_000009.10:g.34638832dup	NCBI36
NG_009029.1:g.7198dup
NG_028966.1:g.1651dup
NG_009029.2:g.7247dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*349dup	ENSP00000509954.1:n.*349dup
ENST00000378842.8:c.761dup MANE Select	ENSP00000368119.4:p.Leu255AlafsTer12
ENST00000378842.7:c.761dup	ENSP00000368119.3:p.Leu255AlafsTer12
ENST00000450095.6:c.434dup	ENSP00000401956.2:p.Leu146AlafsTer12
ENST00000473506.6:c.*349dup	ENSP00000432839.2:n.*349dup
ENST00000489643.6:n.841dup
ENST00000554085.5:c.*505dup	ENSP00000450419.1:n.*505dup
ENST00000554550.5:c.*381dup	ENSP00000451435.1:n.*381dup
ENST00000554638.5:n.1233dup
ENST00000555020.5:n.1222dup
ENST00000555086.5:n.765dup
ENST00000555754.1:n.106dup
ENST00000556244.1:c.748dup
ENST00000556278.1:c.432+379dup	ENSP00000451792.1:n.432+379dup
ENST00000557706.5:n.1323dup
NM_000155.3:c.761dup	NP_000146.2:p.Leu255AlafsTer12
NM_001258332.1:c.434dup	NP_001245261.1:p.Leu146AlafsTer12
NM_000155.4:c.761dup MANE Select	NP_000146.2:p.Leu255AlafsTer12
NM_001258332.2:c.434dup	NP_001245261.1:p.Leu146AlafsTer12