Canonical Allele Identifier: CA5036209

Gene: GALT

Linked Data

• dbSNP Id: rs761133762
• ExAC: 9:34648850 A / G
• gnomAD v2: 9-34648850-A-G
• gnomAD v4: 9-34648853-A-G
• MyVariant Identifiers: chr9:g.34648850A>G (hg19) ; chr9:g.34648853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648853A>G , CM000671.2:g.34648853A>G	GRCh38
NC_000009.11:g.34648850A>G , CM000671.1:g.34648850A>G	GRCh37
NC_000009.10:g.34638850A>G	NCBI36
NG_009029.1:g.7216A>G
NG_028966.1:g.1669A>G
NG_009029.2:g.7265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*367A>G	ENSP00000509954.1:n.*367A>G
ENST00000378842.8:c.779A>G MANE Select	ENSP00000368119.4:p.His260Arg
ENST00000378842.7:c.779A>G	ENSP00000368119.3:p.His260Arg
ENST00000450095.6:c.452A>G	ENSP00000401956.2:p.His151Arg
ENST00000473506.6:c.*367A>G	ENSP00000432839.2:n.*367A>G
ENST00000489643.6:n.859A>G
ENST00000554085.5:c.*523A>G	ENSP00000450419.1:n.*523A>G
ENST00000554550.5:c.*399A>G	ENSP00000451435.1:n.*399A>G
ENST00000554638.5:n.1251A>G
ENST00000555020.5:n.1240A>G
ENST00000555086.5:n.783A>G
ENST00000555754.1:n.124A>G
ENST00000556244.1:c.766A>G
ENST00000556278.1:c.432+397A>G	ENSP00000451792.1:n.432+397A>G
ENST00000557706.5:n.1341A>G
NM_000155.3:c.779A>G	NP_000146.2:p.His260Arg
NM_001258332.1:c.452A>G	NP_001245261.1:p.His151Arg
NM_000155.4:c.779A>G MANE Select	NP_000146.2:p.His260Arg
NM_001258332.2:c.452A>G	NP_001245261.1:p.His151Arg