Canonical Allele Identifier: CA373284008

Gene: GALT

Linked Data

• dbSNP Id: rs1351126547
• gnomAD v3: 9-34648879-C-G
• gnomAD v4: 9-34648879-C-G
• MyVariant Identifiers: chr9:g.34648876C>G (hg19) ; chr9:g.34648879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648879C>G , CM000671.2:g.34648879C>G	GRCh38
NC_000009.11:g.34648876C>G , CM000671.1:g.34648876C>G	GRCh37
NC_000009.10:g.34638876C>G	NCBI36
NG_009029.1:g.7242C>G
NG_028966.1:g.1695C>G
NG_009029.2:g.7291C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*393C>G	ENSP00000509954.1:n.*393C>G
ENST00000378842.8:c.805C>G MANE Select	ENSP00000368119.4:p.Pro269Ala
ENST00000378842.7:c.805C>G	ENSP00000368119.3:p.Pro269Ala
ENST00000450095.6:c.478C>G	ENSP00000401956.2:p.Pro160Ala
ENST00000473506.6:c.*393C>G	ENSP00000432839.2:n.*393C>G
ENST00000489643.6:n.885C>G
ENST00000554085.5:c.*549C>G	ENSP00000450419.1:n.*549C>G
ENST00000554550.5:c.*425C>G	ENSP00000451435.1:n.*425C>G
ENST00000554638.5:n.1277C>G
ENST00000555020.5:n.1266C>G
ENST00000555086.5:n.809C>G
ENST00000555754.1:n.150C>G
ENST00000556244.1:c.792C>G
ENST00000556278.1:c.432+423C>G	ENSP00000451792.1:n.432+423C>G
ENST00000557706.5:n.1367C>G
NM_000155.3:c.805C>G	NP_000146.2:p.Pro269Ala
NM_001258332.1:c.478C>G	NP_001245261.1:p.Pro160Ala
NM_000155.4:c.805C>G MANE Select	NP_000146.2:p.Pro269Ala
NM_001258332.2:c.478C>G	NP_001245261.1:p.Pro160Ala