Canonical Allele Identifier: CA1123157408

Gene: GALT

Linked Data

• dbSNP Id: rs1821169306
• gnomAD v3: 9-34648512-G-T
• gnomAD v4: 9-34648512-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648512G>T , CM000671.2:g.34648512G>T	GRCh38
NC_000009.11:g.34648509G>T , CM000671.1:g.34648509G>T	GRCh37
NC_000009.10:g.34638509G>T	NCBI36
NG_009029.1:g.6875G>T
NG_028966.1:g.1328G>T
NG_009029.2:g.6924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+56G>T	ENSP00000509954.1:n.*275+56G>T
ENST00000378842.8:c.687+56G>T MANE Select	ENSP00000368119.4:n.687+56G>T
ENST00000378842.7:c.687+56G>T	ENSP00000368119.3:n.687+56G>T
ENST00000450095.6:c.360+56G>T	ENSP00000401956.2:n.360+56G>T
ENST00000473506.6:c.*275+56G>T	ENSP00000432839.2:n.*275+56G>T
ENST00000473529.5:n.846+56G>T
ENST00000487381.5:n.1128G>T
ENST00000489643.6:n.518G>T
ENST00000554085.5:c.*431+56G>T	ENSP00000450419.1:n.*431+56G>T
ENST00000554550.5:c.*307+56G>T	ENSP00000451435.1:n.*307+56G>T
ENST00000554638.5:n.1159+56G>T
ENST00000555020.5:n.899G>T
ENST00000555086.5:n.691+56G>T
ENST00000555214.5:n.564G>T
ENST00000555754.1:n.32+56G>T
ENST00000556244.1:c.674+56G>T
ENST00000556278.1:c.432+56G>T	ENSP00000451792.1:n.432+56G>T
ENST00000556494.5:n.864G>T
ENST00000557706.5:n.1249+56G>T
NM_000155.3:c.687+56G>T	NP_000146.2:n.687+56G>T
NM_001258332.1:c.360+56G>T	NP_001245261.1:n.360+56G>T
NM_000155.4:c.687+56G>T MANE Select	NP_000146.2:n.687+56G>T
NM_001258332.2:c.360+56G>T	NP_001245261.1:n.360+56G>T