Canonical Allele Identifier: CA373283405

Gene: GALT

Linked Data

• gnomAD v4: 9-34648778-C-T
• MyVariant Identifiers: chr9:g.34648775C>T (hg19) ; chr9:g.34648778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648778C>T , CM000671.2:g.34648778C>T	GRCh38
NC_000009.11:g.34648775C>T , CM000671.1:g.34648775C>T	GRCh37
NC_000009.10:g.34638775C>T	NCBI36
NG_009029.1:g.7141C>T
NG_028966.1:g.1594C>T
NG_009029.2:g.7190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*292C>T	ENSP00000509954.1:n.*292C>T
ENST00000378842.8:c.704C>T MANE Select	ENSP00000368119.4:p.Thr235Ile
ENST00000378842.7:c.704C>T	ENSP00000368119.3:p.Thr235Ile
ENST00000450095.6:c.377C>T	ENSP00000401956.2:p.Thr126Ile
ENST00000473506.6:c.*292C>T	ENSP00000432839.2:n.*292C>T
ENST00000473529.5:n.863C>T
ENST00000487381.5:n.1394C>T
ENST00000489643.6:n.784C>T
ENST00000554085.5:c.*448C>T	ENSP00000450419.1:n.*448C>T
ENST00000554550.5:c.*324C>T	ENSP00000451435.1:n.*324C>T
ENST00000554638.5:n.1176C>T
ENST00000555020.5:n.1165C>T
ENST00000555086.5:n.708C>T
ENST00000555754.1:n.49C>T
ENST00000556244.1:c.691C>T
ENST00000556278.1:c.432+322C>T	ENSP00000451792.1:n.432+322C>T
ENST00000557706.5:n.1266C>T
NM_000155.3:c.704C>T	NP_000146.2:p.Thr235Ile
NM_001258332.1:c.377C>T	NP_001245261.1:p.Thr126Ile
NM_000155.4:c.704C>T MANE Select	NP_000146.2:p.Thr235Ile
NM_001258332.2:c.377C>T	NP_001245261.1:p.Thr126Ile