Canonical Allele Identifier: CA1123157131

Gene: GALT

Linked Data

• dbSNP Id: rs1821151665
• gnomAD v3: 9-34647991-G-T
• gnomAD v4: 9-34647991-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647991G>T , CM000671.2:g.34647991G>T	GRCh38
NC_000009.11:g.34647988G>T , CM000671.1:g.34647988G>T	GRCh37
NC_000009.10:g.34637988G>T	NCBI36
NG_009029.1:g.6354G>T
NG_028966.1:g.807G>T
NG_009029.2:g.6403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+30G>T	ENSP00000509954.1:n.*95+30G>T
ENST00000378842.8:c.507+30G>T MANE Select	ENSP00000368119.4:n.507+30G>T
ENST00000378842.7:c.507+30G>T	ENSP00000368119.3:n.507+30G>T
ENST00000450095.6:c.180+30G>T	ENSP00000401956.2:n.180+30G>T
ENST00000465543.6:n.846+30G>T
ENST00000472111.5:n.763+30G>T
ENST00000473506.6:c.*95+30G>T	ENSP00000432839.2:n.*95+30G>T
ENST00000473529.5:n.643+30G>T
ENST00000485531.1:n.978G>T
ENST00000487381.5:n.892+30G>T
ENST00000489643.6:n.283-124G>T
ENST00000554085.5:c.*251+30G>T	ENSP00000450419.1:n.*251+30G>T
ENST00000554139.5:n.686+30G>T
ENST00000554550.5:c.*127+30G>T	ENSP00000451435.1:n.*127+30G>T
ENST00000554638.5:n.979+30G>T
ENST00000554897.5:c.*127+30G>T	ENSP00000450942.1:n.*127+30G>T
ENST00000554944.5:n.733G>T
ENST00000555020.5:n.663+30G>T
ENST00000555086.5:n.511+30G>T
ENST00000555214.5:n.262-57G>T
ENST00000556244.1:c.494+30G>T
ENST00000556278.1:c.253-124G>T	ENSP00000451792.1:n.253-124G>T
ENST00000556494.5:n.628+30G>T
ENST00000557706.5:n.1069+30G>T
NM_000155.3:c.507+30G>T	NP_000146.2:n.507+30G>T
NM_001258332.1:c.180+30G>T	NP_001245261.1:n.180+30G>T
NM_000155.4:c.507+30G>T MANE Select	NP_000146.2:n.507+30G>T
NM_001258332.2:c.180+30G>T	NP_001245261.1:n.180+30G>T