Canonical Allele Identifier: CA2689808600

Gene: GALT

Linked Data

• gnomAD v4: 9-34647405-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647405T>G , CM000671.2:g.34647405T>G	GRCh38
NC_000009.11:g.34647402T>G , CM000671.1:g.34647402T>G	GRCh37
NC_000009.10:g.34637402T>G	NCBI36
NG_009029.1:g.5768T>G
NG_028966.1:g.221T>G
NG_009029.2:g.5817T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.253-87T>G	ENSP00000509954.1:n.253-87T>G
ENST00000378842.8:c.253-87T>G MANE Select	ENSP00000368119.4:n.253-87T>G
ENST00000378842.7:c.253-87T>G	ENSP00000368119.3:n.253-87T>G
ENST00000450095.6:c.50+147T>G	ENSP00000401956.2:n.50+147T>G
ENST00000465543.6:n.592-87T>G
ENST00000468099.2:n.439T>G
ENST00000472111.5:n.294-87T>G
ENST00000473506.6:c.253-136T>G	ENSP00000432839.2:n.253-136T>G
ENST00000473529.5:n.300-87T>G
ENST00000485531.1:n.392T>G
ENST00000487381.5:n.425T>G
ENST00000489643.6:n.282+147T>G
ENST00000554085.5:c.253-70T>G	ENSP00000450419.1:n.253-70T>G
ENST00000554139.5:n.306-87T>G
ENST00000554330.5:n.250-136T>G
ENST00000554550.5:c.252+147T>G	ENSP00000451435.1:n.252+147T>G
ENST00000554638.5:n.423T>G
ENST00000554897.5:c.252+147T>G	ENSP00000450942.1:n.252+147T>G
ENST00000554944.5:n.283-136T>G
ENST00000555020.5:n.283-87T>G
ENST00000555086.5:n.257-87T>G
ENST00000555214.5:n.261+147T>G
ENST00000556157.1:n.360-70T>G
ENST00000556244.1:c.153T>G
ENST00000556278.1:c.252+147T>G	ENSP00000451792.1:n.252+147T>G
ENST00000556403.5:n.266-87T>G
ENST00000556494.5:n.285-87T>G
ENST00000557541.5:n.446-136T>G
ENST00000557706.5:n.513T>G
NM_000155.3:c.253-87T>G	NP_000146.2:n.253-87T>G
NM_001258332.1:c.50+147T>G	NP_001245261.1:n.50+147T>G
NM_000155.4:c.253-87T>G MANE Select	NP_000146.2:n.253-87T>G
NM_001258332.2:c.50+147T>G	NP_001245261.1:n.50+147T>G