Canonical Allele Identifier: CA373282283

Gene: GALT

Linked Data

• gnomAD v4: 9-34648431-A-G
• MyVariant Identifiers: chr9:g.34648428A>G (hg19) ; chr9:g.34648431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648431A>G , CM000671.2:g.34648431A>G	GRCh38
NC_000009.11:g.34648428A>G , CM000671.1:g.34648428A>G	GRCh37
NC_000009.10:g.34638428A>G	NCBI36
NG_009029.1:g.6794A>G
NG_028966.1:g.1247A>G
NG_009029.2:g.6843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*250A>G	ENSP00000509954.1:n.*250A>G
ENST00000378842.8:c.662A>G MANE Select	ENSP00000368119.4:p.Tyr221Cys
ENST00000378842.7:c.662A>G	ENSP00000368119.3:p.Tyr221Cys
ENST00000450095.6:c.335A>G	ENSP00000401956.2:p.Tyr112Cys
ENST00000472111.5:n.918A>G
ENST00000473506.6:c.*250A>G	ENSP00000432839.2:n.*250A>G
ENST00000473529.5:n.821A>G
ENST00000487381.5:n.1047A>G
ENST00000489643.6:n.437A>G
ENST00000554085.5:c.*406A>G	ENSP00000450419.1:n.*406A>G
ENST00000554550.5:c.*282A>G	ENSP00000451435.1:n.*282A>G
ENST00000554638.5:n.1134A>G
ENST00000555020.5:n.818A>G
ENST00000555086.5:n.666A>G
ENST00000555214.5:n.483A>G
ENST00000555754.1:n.7A>G
ENST00000556244.1:c.649A>G
ENST00000556278.1:c.407A>G	ENSP00000451792.1:p.Tyr136Cys
ENST00000556494.5:n.783A>G
ENST00000557706.5:n.1224A>G
NM_000155.3:c.662A>G	NP_000146.2:p.Tyr221Cys
NM_001258332.1:c.335A>G	NP_001245261.1:p.Tyr112Cys
NM_000155.4:c.662A>G MANE Select	NP_000146.2:p.Tyr221Cys
NM_001258332.2:c.335A>G	NP_001245261.1:p.Tyr112Cys