Canonical Allele Identifier: CA1845639203

Gene: GALT

Linked Data

• dbSNP Id: rs1821169222
• gnomAD v3: 9-34648511-T-G
• gnomAD v4: 9-34648511-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648511T>G , CM000671.2:g.34648511T>G	GRCh38
NC_000009.11:g.34648508T>G , CM000671.1:g.34648508T>G	GRCh37
NC_000009.10:g.34638508T>G	NCBI36
NG_009029.1:g.6874T>G
NG_028966.1:g.1327T>G
NG_009029.2:g.6923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+55T>G	ENSP00000509954.1:n.*275+55T>G
ENST00000378842.8:c.687+55T>G MANE Select	ENSP00000368119.4:n.687+55T>G
ENST00000378842.7:c.687+55T>G	ENSP00000368119.3:n.687+55T>G
ENST00000450095.6:c.360+55T>G	ENSP00000401956.2:n.360+55T>G
ENST00000473506.6:c.*275+55T>G	ENSP00000432839.2:n.*275+55T>G
ENST00000473529.5:n.846+55T>G
ENST00000487381.5:n.1127T>G
ENST00000489643.6:n.517T>G
ENST00000554085.5:c.*431+55T>G	ENSP00000450419.1:n.*431+55T>G
ENST00000554550.5:c.*307+55T>G	ENSP00000451435.1:n.*307+55T>G
ENST00000554638.5:n.1159+55T>G
ENST00000555020.5:n.898T>G
ENST00000555086.5:n.691+55T>G
ENST00000555214.5:n.563T>G
ENST00000555754.1:n.32+55T>G
ENST00000556244.1:c.674+55T>G
ENST00000556278.1:c.432+55T>G	ENSP00000451792.1:n.432+55T>G
ENST00000556494.5:n.863T>G
ENST00000557706.5:n.1249+55T>G
NM_000155.3:c.687+55T>G	NP_000146.2:n.687+55T>G
NM_001258332.1:c.360+55T>G	NP_001245261.1:n.360+55T>G
NM_000155.4:c.687+55T>G MANE Select	NP_000146.2:n.687+55T>G
NM_001258332.2:c.360+55T>G	NP_001245261.1:n.360+55T>G