Canonical Allele Identifier: CA373284669

Gene: GALT

Linked Data

• dbSNP Id: rs1383205923
• gnomAD v2: 9-34649416-C-T
• gnomAD v4: 9-34649419-C-T
• MyVariant Identifiers: chr9:g.34649416C>T (hg19) ; chr9:g.34649419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649419C>T , CM000671.2:g.34649419C>T	GRCh38
NC_000009.11:g.34649416C>T , CM000671.1:g.34649416C>T	GRCh37
NC_000009.10:g.34639416C>T	NCBI36
NG_009029.1:g.7782C>T
NG_028966.1:g.2235C>T
NG_009029.2:g.7831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*502C>T	ENSP00000509954.1:n.*502C>T
ENST00000378842.8:c.914C>T MANE Select	ENSP00000368119.4:p.Thr305Ile
ENST00000378842.7:c.914C>T	ENSP00000368119.3:p.Thr305Ile
ENST00000450095.6:c.587C>T	ENSP00000401956.2:p.Thr196Ile
ENST00000488412.2:n.498C>T
ENST00000489643.6:n.1322C>T
ENST00000554550.5:c.*534C>T	ENSP00000451435.1:n.*534C>T
ENST00000554638.5:n.1386C>T
ENST00000555020.5:n.1703C>T
ENST00000555754.1:n.362C>T
ENST00000556278.1:c.432+963C>T	ENSP00000451792.1:n.432+963C>T
ENST00000557706.5:n.1489C>T
NM_000155.3:c.914C>T	NP_000146.2:p.Thr305Ile
NM_001258332.1:c.587C>T	NP_001245261.1:p.Thr196Ile
NM_000155.4:c.914C>T MANE Select	NP_000146.2:p.Thr305Ile
NM_001258332.2:c.587C>T	NP_001245261.1:p.Thr196Ile