Canonical Allele Identifier: CA587568199

Gene: GALT

Linked Data

• ClinVar Variation Id: 1104414
• ClinVar RCV Id: RCV001428462
• dbSNP Id: rs1320038166
• gnomAD v2: 9-34647647-A-T
• gnomAD v3: 9-34647650-A-T
• gnomAD v4: 9-34647650-A-T
• MyVariant Identifiers: chr9:g.34647647A>T (hg19) ; chr9:g.34647650A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647650A>T , CM000671.2:g.34647650A>T	GRCh38
NC_000009.11:g.34647647A>T , CM000671.1:g.34647647A>T	GRCh37
NC_000009.10:g.34637647A>T	NCBI36
NG_009029.1:g.6013A>T
NG_028966.1:g.466A>T
NG_009029.2:g.6062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+83A>T	ENSP00000509954.1:n.328+83A>T
ENST00000378842.8:c.329-7A>T MANE Select	ENSP00000368119.4:n.329-7A>T
ENST00000378842.7:c.329-7A>T	ENSP00000368119.3:n.329-7A>T
ENST00000450095.6:c.51-182A>T	ENSP00000401956.2:n.51-182A>T
ENST00000465543.6:n.668-7A>T
ENST00000472111.5:n.452A>T
ENST00000473506.6:c.280-7A>T	ENSP00000432839.2:n.280-7A>T
ENST00000473529.5:n.458A>T
ENST00000485531.1:n.637A>T
ENST00000487381.5:n.588-7A>T
ENST00000489643.6:n.282+392A>T
ENST00000554085.5:c.*73-7A>T	ENSP00000450419.1:n.*73-7A>T
ENST00000554139.5:n.382-7A>T
ENST00000554330.5:n.359A>T
ENST00000554550.5:c.253-182A>T	ENSP00000451435.1:n.253-182A>T
ENST00000554638.5:n.668A>T
ENST00000554897.5:c.253-182A>T	ENSP00000450942.1:n.253-182A>T
ENST00000554944.5:n.392A>T
ENST00000555020.5:n.359-7A>T
ENST00000555086.5:n.333-7A>T
ENST00000555214.5:n.261+392A>T
ENST00000556157.1:n.453-7A>T
ENST00000556244.1:c.316-7A>T
ENST00000556278.1:c.252+392A>T	ENSP00000451792.1:n.252+392A>T
ENST00000556403.5:n.424A>T
ENST00000556494.5:n.443A>T
ENST00000557541.5:n.473-7A>T
ENST00000557706.5:n.758A>T
NM_000155.3:c.329-7A>T	NP_000146.2:n.329-7A>T
NM_001258332.1:c.51-182A>T	NP_001245261.1:n.51-182A>T
NM_000155.4:c.329-7A>T MANE Select	NP_000146.2:n.329-7A>T
NM_001258332.2:c.51-182A>T	NP_001245261.1:n.51-182A>T