Canonical Allele Identifier: CA863497158

Gene: GALT

Linked Data

• dbSNP Id: rs1330314529
• gnomAD v3: 9-34649252-C-T
• gnomAD v4: 9-34649252-C-T
• MyVariant Identifiers: chr9:g.34649249C>T (hg19) ; chr9:g.34649252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649252C>T , CM000671.2:g.34649252C>T	GRCh38
NC_000009.11:g.34649249C>T , CM000671.1:g.34649249C>T	GRCh37
NC_000009.10:g.34639249C>T	NCBI36
NG_009029.1:g.7615C>T
NG_028966.1:g.2068C>T
NG_009029.2:g.7664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*493-158C>T	ENSP00000509954.1:n.*493-158C>T
ENST00000378842.8:c.905-158C>T MANE Select	ENSP00000368119.4:n.905-158C>T
ENST00000378842.7:c.905-158C>T	ENSP00000368119.3:n.905-158C>T
ENST00000450095.6:c.578-158C>T	ENSP00000401956.2:n.578-158C>T
ENST00000488412.2:n.331C>T
ENST00000489643.6:n.1155C>T
ENST00000554550.5:c.*525-158C>T	ENSP00000451435.1:n.*525-158C>T
ENST00000554638.5:n.1377-158C>T
ENST00000555020.5:n.1536C>T
ENST00000555754.1:n.353-158C>T
ENST00000556278.1:c.432+796C>T	ENSP00000451792.1:n.432+796C>T
ENST00000557706.5:n.1480-158C>T
NM_000155.3:c.905-158C>T	NP_000146.2:n.905-158C>T
NM_001258332.1:c.578-158C>T	NP_001245261.1:n.578-158C>T
NM_000155.4:c.905-158C>T MANE Select	NP_000146.2:n.905-158C>T
NM_001258332.2:c.578-158C>T	NP_001245261.1:n.578-158C>T