Canonical Allele Identifier: CA863496395

Gene: GALT

Linked Data

• dbSNP Id: rs1393094997
• gnomAD v3: 9-34648685-C-A
• gnomAD v4: 9-34648685-C-A
• MyVariant Identifiers: chr9:g.34648682C>A (hg19) ; chr9:g.34648685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648685C>A , CM000671.2:g.34648685C>A	GRCh38
NC_000009.11:g.34648682C>A , CM000671.1:g.34648682C>A	GRCh37
NC_000009.10:g.34638682C>A	NCBI36
NG_009029.1:g.7048C>A
NG_028966.1:g.1501C>A
NG_009029.2:g.7097C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276-77C>A	ENSP00000509954.1:n.*276-77C>A
ENST00000378842.8:c.688-77C>A MANE Select	ENSP00000368119.4:n.688-77C>A
ENST00000378842.7:c.688-77C>A	ENSP00000368119.3:n.688-77C>A
ENST00000450095.6:c.361-77C>A	ENSP00000401956.2:n.361-77C>A
ENST00000473506.6:c.*276-77C>A	ENSP00000432839.2:n.*276-77C>A
ENST00000473529.5:n.847-77C>A
ENST00000487381.5:n.1301C>A
ENST00000489643.6:n.691C>A
ENST00000554085.5:c.*432-77C>A	ENSP00000450419.1:n.*432-77C>A
ENST00000554550.5:c.*308-77C>A	ENSP00000451435.1:n.*308-77C>A
ENST00000554638.5:n.1160-77C>A
ENST00000555020.5:n.1072C>A
ENST00000555086.5:n.692-77C>A
ENST00000555754.1:n.33-77C>A
ENST00000556244.1:c.675-77C>A
ENST00000556278.1:c.432+229C>A	ENSP00000451792.1:n.432+229C>A
ENST00000557706.5:n.1250-77C>A
NM_000155.3:c.688-77C>A	NP_000146.2:n.688-77C>A
NM_001258332.1:c.361-77C>A	NP_001245261.1:n.361-77C>A
NM_000155.4:c.688-77C>A MANE Select	NP_000146.2:n.688-77C>A
NM_001258332.2:c.361-77C>A	NP_001245261.1:n.361-77C>A