Canonical Allele Identifier: CA373280270

Gene: GALT

Linked Data

• gnomAD v4: 9-34647662-A-T
• MyVariant Identifiers: chr9:g.34647659A>T (hg19) ; chr9:g.34647662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647662A>T , CM000671.2:g.34647662A>T	GRCh38
NC_000009.11:g.34647659A>T , CM000671.1:g.34647659A>T	GRCh37
NC_000009.10:g.34637659A>T	NCBI36
NG_009029.1:g.6025A>T
NG_028966.1:g.478A>T
NG_009029.2:g.6074A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+95A>T	ENSP00000509954.1:n.328+95A>T
ENST00000378842.8:c.334A>T MANE Select	ENSP00000368119.4:p.Ser112Cys
ENST00000378842.7:c.334A>T	ENSP00000368119.3:p.Ser112Cys
ENST00000450095.6:c.51-170A>T	ENSP00000401956.2:n.51-170A>T
ENST00000465543.6:n.673A>T
ENST00000472111.5:n.464A>T
ENST00000473506.6:c.285A>T	ENSP00000432839.2:p.Pro95=
ENST00000473529.5:n.470A>T
ENST00000485531.1:n.649A>T
ENST00000487381.5:n.593A>T
ENST00000489643.6:n.282+404A>T
ENST00000554085.5:c.*78A>T	ENSP00000450419.1:n.*78A>T
ENST00000554139.5:n.387A>T
ENST00000554330.5:n.371A>T
ENST00000554550.5:c.253-170A>T	ENSP00000451435.1:n.253-170A>T
ENST00000554638.5:n.680A>T
ENST00000554897.5:c.253-170A>T	ENSP00000450942.1:n.253-170A>T
ENST00000554944.5:n.404A>T
ENST00000555020.5:n.364A>T
ENST00000555086.5:n.338A>T
ENST00000555214.5:n.262-386A>T
ENST00000556157.1:n.458A>T
ENST00000556244.1:c.321A>T
ENST00000556278.1:c.252+404A>T	ENSP00000451792.1:n.252+404A>T
ENST00000556403.5:n.436A>T
ENST00000556494.5:n.455A>T
ENST00000557541.5:n.478A>T
ENST00000557706.5:n.770A>T
NM_000155.3:c.334A>T	NP_000146.2:p.Ser112Cys
NM_001258332.1:c.51-170A>T	NP_001245261.1:n.51-170A>T
NM_000155.4:c.334A>T MANE Select	NP_000146.2:p.Ser112Cys
NM_001258332.2:c.51-170A>T	NP_001245261.1:n.51-170A>T