Canonical Allele Identifier: CA10603789

Gene: GALT

Linked Data

• ClinVar Variation Id: 281034
• ClinVar RCV Id: RCV000264514
• dbSNP Id: rs886042082
• gnomAD v2: 9-34647635-T-C
• gnomAD v3: 9-34647638-T-C
• gnomAD v4: 9-34647638-T-C
• MyVariant Identifiers: chr9:g.34647635T>C (hg19) ; chr9:g.34647638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647638T>C , CM000671.2:g.34647638T>C	GRCh38
NC_000009.11:g.34647635T>C , CM000671.1:g.34647635T>C	GRCh37
NC_000009.10:g.34637635T>C	NCBI36
NG_009029.1:g.6001T>C
NG_028966.1:g.454T>C
NG_009029.2:g.6050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+71T>C	ENSP00000509954.1:n.328+71T>C
ENST00000378842.8:c.329-19T>C MANE Select	ENSP00000368119.4:n.329-19T>C
ENST00000378842.7:c.329-19T>C	ENSP00000368119.3:n.329-19T>C
ENST00000450095.6:c.51-194T>C	ENSP00000401956.2:n.51-194T>C
ENST00000465543.6:n.668-19T>C
ENST00000472111.5:n.440T>C
ENST00000473506.6:c.280-19T>C	ENSP00000432839.2:n.280-19T>C
ENST00000473529.5:n.446T>C
ENST00000485531.1:n.625T>C
ENST00000487381.5:n.588-19T>C
ENST00000489643.6:n.282+380T>C
ENST00000554085.5:c.*73-19T>C	ENSP00000450419.1:n.*73-19T>C
ENST00000554139.5:n.382-19T>C
ENST00000554330.5:n.347T>C
ENST00000554550.5:c.253-194T>C	ENSP00000451435.1:n.253-194T>C
ENST00000554638.5:n.656T>C
ENST00000554897.5:c.253-194T>C	ENSP00000450942.1:n.253-194T>C
ENST00000554944.5:n.380T>C
ENST00000555020.5:n.359-19T>C
ENST00000555086.5:n.333-19T>C
ENST00000555214.5:n.261+380T>C
ENST00000556157.1:n.453-19T>C
ENST00000556244.1:c.316-19T>C
ENST00000556278.1:c.252+380T>C	ENSP00000451792.1:n.252+380T>C
ENST00000556403.5:n.412T>C
ENST00000556494.5:n.431T>C
ENST00000557541.5:n.473-19T>C
ENST00000557706.5:n.746T>C
NM_000155.3:c.329-19T>C	NP_000146.2:n.329-19T>C
NM_001258332.1:c.51-194T>C	NP_001245261.1:n.51-194T>C
NM_000155.4:c.329-19T>C MANE Select	NP_000146.2:n.329-19T>C
NM_001258332.2:c.51-194T>C	NP_001245261.1:n.51-194T>C