Canonical Allele Identifier: CA373278549

Gene: GALT

Linked Data

• dbSNP Id: rs1324892935
• gnomAD v2: 9-34647118-G-T
• gnomAD v3: 9-34647121-G-T
• gnomAD v4: 9-34647121-G-T
• MyVariant Identifiers: chr9:g.34647118G>T (hg19) ; chr9:g.34647121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647121G>T , CM000671.2:g.34647121G>T	GRCh38
NC_000009.11:g.34647118G>T , CM000671.1:g.34647118G>T	GRCh37
NC_000009.10:g.34637118G>T	NCBI36
NG_009029.1:g.5484G>T
NG_009029.2:g.5533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.115G>T	ENSP00000509954.1:p.Asp39Tyr
ENST00000378842.8:c.115G>T MANE Select	ENSP00000368119.4:p.Asp39Tyr
ENST00000378842.7:c.115G>T	ENSP00000368119.3:p.Asp39Tyr
ENST00000450095.6:c.-88G>T	ENSP00000401956.2:n.-88G>T
ENST00000465543.6:n.454G>T
ENST00000468099.2:n.155G>T
ENST00000472111.5:n.156G>T
ENST00000473506.6:c.115G>T	ENSP00000432839.2:p.Asp39Tyr
ENST00000473529.5:n.162G>T
ENST00000485531.1:n.108G>T
ENST00000487381.5:n.141G>T
ENST00000489643.6:n.145G>T
ENST00000554085.5:c.115G>T	ENSP00000450419.1:p.Asp39Tyr
ENST00000554139.5:n.168G>T
ENST00000554330.5:n.112G>T
ENST00000554550.5:c.115G>T	ENSP00000451435.1:p.Asp39Tyr
ENST00000554638.5:n.139G>T
ENST00000554897.5:c.115G>T	ENSP00000450942.1:p.Asp39Tyr
ENST00000554944.5:n.145G>T
ENST00000555020.5:n.145G>T
ENST00000555086.5:n.119G>T
ENST00000555214.5:n.124G>T
ENST00000556157.1:n.222G>T
ENST00000556278.1:c.115G>T	ENSP00000451792.1:p.Asp39Tyr
ENST00000556403.5:n.128G>T
ENST00000556494.5:n.147G>T
ENST00000557541.5:n.308G>T
ENST00000557706.5:n.229G>T
ENST00000605275.1:n.653G>T
NM_000155.3:c.115G>T	NP_000146.2:p.Asp39Tyr
NM_001258332.1:c.-88G>T	NP_001245261.1:n.-88G>T
NM_000155.4:c.115G>T MANE Select	NP_000146.2:p.Asp39Tyr
NM_001258332.2:c.-88G>T	NP_001245261.1:n.-88G>T