Canonical Allele Identifier: CA10603761

Gene: GALT

Linked Data

• ClinVar Variation Id: 280967
• ClinVar RCV Id: RCV000333580
• dbSNP Id: rs886042063
• gnomAD v2: 9-34647235-G-A
• gnomAD v3: 9-34647238-G-A
• gnomAD v4: 9-34647238-G-A
• MyVariant Identifiers: chr9:g.34647235G>A (hg19) ; chr9:g.34647238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647238G>A , CM000671.2:g.34647238G>A	GRCh38
NC_000009.11:g.34647235G>A , CM000671.1:g.34647235G>A	GRCh37
NC_000009.10:g.34637235G>A	NCBI36
NG_009029.1:g.5601G>A
NG_028966.1:g.54G>A
NG_009029.2:g.5650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.232G>A	ENSP00000509954.1:p.Ala78Thr
ENST00000378842.8:c.232G>A MANE Select	ENSP00000368119.4:p.Ala78Thr
ENST00000378842.7:c.232G>A	ENSP00000368119.3:p.Ala78Thr
ENST00000450095.6:c.30G>A	ENSP00000401956.2:p.Gly10=
ENST00000465543.6:n.571G>A
ENST00000468099.2:n.272G>A
ENST00000472111.5:n.273G>A
ENST00000473506.6:c.232G>A	ENSP00000432839.2:p.Ala78Thr
ENST00000473529.5:n.279G>A
ENST00000485531.1:n.225G>A
ENST00000487381.5:n.258G>A
ENST00000489643.6:n.262G>A
ENST00000554085.5:c.232G>A	ENSP00000450419.1:p.Ala78Thr
ENST00000554139.5:n.285G>A
ENST00000554330.5:n.229G>A
ENST00000554550.5:c.232G>A	ENSP00000451435.1:p.Ala78Thr
ENST00000554638.5:n.256G>A
ENST00000554897.5:c.232G>A	ENSP00000450942.1:p.Ala78Thr
ENST00000554944.5:n.262G>A
ENST00000555020.5:n.262G>A
ENST00000555086.5:n.236G>A
ENST00000555214.5:n.241G>A
ENST00000556157.1:n.339G>A
ENST00000556244.1:c.116G>A
ENST00000556278.1:c.232G>A	ENSP00000451792.1:p.Ala78Thr
ENST00000556403.5:n.245G>A
ENST00000556494.5:n.264G>A
ENST00000557541.5:n.425G>A
ENST00000557706.5:n.346G>A
NM_000155.3:c.232G>A	NP_000146.2:p.Ala78Thr
NM_001258332.1:c.30G>A	NP_001245261.1:p.Gly10=
NM_000155.4:c.232G>A MANE Select	NP_000146.2:p.Ala78Thr
NM_001258332.2:c.30G>A	NP_001245261.1:p.Gly10=