Canonical Allele Identifier: CA587568204

Gene: GALT

Linked Data

• dbSNP Id: rs1285950856
• gnomAD v2: 9-34647747-A-G
• gnomAD v4: 9-34647750-A-G
• MyVariant Identifiers: chr9:g.34647747A>G (hg19) ; chr9:g.34647750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647750A>G , CM000671.2:g.34647750A>G	GRCh38
NC_000009.11:g.34647747A>G , CM000671.1:g.34647747A>G	GRCh37
NC_000009.10:g.34637747A>G	NCBI36
NG_009029.1:g.6113A>G
NG_028966.1:g.566A>G
NG_009029.2:g.6162A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-82A>G	ENSP00000509954.1:n.329-82A>G
ENST00000378842.8:c.377+45A>G MANE Select	ENSP00000368119.4:n.377+45A>G
ENST00000378842.7:c.377+45A>G	ENSP00000368119.3:n.377+45A>G
ENST00000450095.6:c.51-82A>G	ENSP00000401956.2:n.51-82A>G
ENST00000465543.6:n.716+45A>G
ENST00000472111.5:n.552A>G
ENST00000473506.6:c.328+45A>G	ENSP00000432839.2:n.328+45A>G
ENST00000473529.5:n.513+45A>G
ENST00000485531.1:n.737A>G
ENST00000487381.5:n.681A>G
ENST00000489643.6:n.283-365A>G
ENST00000554085.5:c.*121+45A>G	ENSP00000450419.1:n.*121+45A>G
ENST00000554139.5:n.475A>G
ENST00000554330.5:n.459A>G
ENST00000554550.5:c.253-82A>G	ENSP00000451435.1:n.253-82A>G
ENST00000554638.5:n.768A>G
ENST00000554897.5:c.253-82A>G	ENSP00000450942.1:n.253-82A>G
ENST00000554944.5:n.492A>G
ENST00000555020.5:n.452A>G
ENST00000555086.5:n.381+45A>G
ENST00000555214.5:n.262-298A>G
ENST00000556157.1:n.546A>G
ENST00000556244.1:c.364+45A>G
ENST00000556278.1:c.253-365A>G	ENSP00000451792.1:n.253-365A>G
ENST00000556403.5:n.524A>G
ENST00000556494.5:n.498+45A>G
ENST00000557541.5:n.521+45A>G
ENST00000557706.5:n.858A>G
NM_000155.3:c.377+45A>G	NP_000146.2:n.377+45A>G
NM_001258332.1:c.51-82A>G	NP_001245261.1:n.51-82A>G
NM_000155.4:c.377+45A>G MANE Select	NP_000146.2:n.377+45A>G
NM_001258332.2:c.51-82A>G	NP_001245261.1:n.51-82A>G