Canonical Allele Identifier: CA587568212

Gene: GALT

Linked Data

• dbSNP Id: rs1188152678
• gnomAD v2: 9-34647978-C-A
• gnomAD v3: 9-34647981-C-A
• gnomAD v4: 9-34647981-C-A
• MyVariant Identifiers: chr9:g.34647978C>A (hg19) ; chr9:g.34647981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647981C>A , CM000671.2:g.34647981C>A	GRCh38
NC_000009.11:g.34647978C>A , CM000671.1:g.34647978C>A	GRCh37
NC_000009.10:g.34637978C>A	NCBI36
NG_009029.1:g.6344C>A
NG_028966.1:g.797C>A
NG_009029.2:g.6393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+20C>A	ENSP00000509954.1:n.*95+20C>A
ENST00000378842.8:c.507+20C>A MANE Select	ENSP00000368119.4:n.507+20C>A
ENST00000378842.7:c.507+20C>A	ENSP00000368119.3:n.507+20C>A
ENST00000450095.6:c.180+20C>A	ENSP00000401956.2:n.180+20C>A
ENST00000465543.6:n.846+20C>A
ENST00000472111.5:n.763+20C>A
ENST00000473506.6:c.*95+20C>A	ENSP00000432839.2:n.*95+20C>A
ENST00000473529.5:n.643+20C>A
ENST00000485531.1:n.968C>A
ENST00000487381.5:n.892+20C>A
ENST00000489643.6:n.283-134C>A
ENST00000554085.5:c.*251+20C>A	ENSP00000450419.1:n.*251+20C>A
ENST00000554139.5:n.686+20C>A
ENST00000554550.5:c.*127+20C>A	ENSP00000451435.1:n.*127+20C>A
ENST00000554638.5:n.979+20C>A
ENST00000554897.5:c.*127+20C>A	ENSP00000450942.1:n.*127+20C>A
ENST00000554944.5:n.723C>A
ENST00000555020.5:n.663+20C>A
ENST00000555086.5:n.511+20C>A
ENST00000555214.5:n.262-67C>A
ENST00000556244.1:c.494+20C>A
ENST00000556278.1:c.253-134C>A	ENSP00000451792.1:n.253-134C>A
ENST00000556494.5:n.628+20C>A
ENST00000557706.5:n.1069+20C>A
NM_000155.3:c.507+20C>A	NP_000146.2:n.507+20C>A
NM_001258332.1:c.180+20C>A	NP_001245261.1:n.180+20C>A
NM_000155.4:c.507+20C>A MANE Select	NP_000146.2:n.507+20C>A
NM_001258332.2:c.180+20C>A	NP_001245261.1:n.180+20C>A