Canonical Allele Identifier: CA373280067

Gene: GALT

Linked Data

• ClinVar Variation Id: 633237
• ClinVar RCV Id: RCV000781406
• dbSNP Id: rs1564100971
• MyVariant Identifiers: chr9:g.34647549G>A (hg19) ; chr9:g.34647552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647552G>A , CM000671.2:g.34647552G>A	GRCh38
NC_000009.11:g.34647549G>A , CM000671.1:g.34647549G>A	GRCh37
NC_000009.10:g.34637549G>A	NCBI36
NG_009029.1:g.5915G>A
NG_028966.1:g.368G>A
NG_009029.2:g.5964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.313G>A	ENSP00000509954.1:p.Asp105Asn
ENST00000378842.8:c.313G>A MANE Select	ENSP00000368119.4:p.Asp105Asn
ENST00000378842.7:c.313G>A	ENSP00000368119.3:p.Asp105Asn
ENST00000450095.6:c.51-280G>A	ENSP00000401956.2:n.51-280G>A
ENST00000465543.6:n.652G>A
ENST00000472111.5:n.354G>A
ENST00000473506.6:c.264G>A	ENSP00000432839.2:p.Leu88=
ENST00000473529.5:n.360G>A
ENST00000485531.1:n.539G>A
ENST00000487381.5:n.572G>A
ENST00000489643.6:n.282+294G>A
ENST00000554085.5:c.*57G>A	ENSP00000450419.1:n.*57G>A
ENST00000554139.5:n.366G>A
ENST00000554330.5:n.261G>A
ENST00000554550.5:c.253-280G>A	ENSP00000451435.1:n.253-280G>A
ENST00000554638.5:n.570G>A
ENST00000554897.5:c.253-280G>A	ENSP00000450942.1:n.253-280G>A
ENST00000554944.5:n.294G>A
ENST00000555020.5:n.343G>A
ENST00000555086.5:n.317G>A
ENST00000555214.5:n.261+294G>A
ENST00000556157.1:n.437G>A
ENST00000556244.1:c.300G>A
ENST00000556278.1:c.252+294G>A	ENSP00000451792.1:n.252+294G>A
ENST00000556403.5:n.326G>A
ENST00000556494.5:n.345G>A
ENST00000557541.5:n.457G>A
ENST00000557706.5:n.660G>A
NM_000155.3:c.313G>A	NP_000146.2:p.Asp105Asn
NM_001258332.1:c.51-280G>A	NP_001245261.1:n.51-280G>A
NM_000155.4:c.313G>A MANE Select	NP_000146.2:p.Asp105Asn
NM_001258332.2:c.51-280G>A	NP_001245261.1:n.51-280G>A