Canonical Allele Identifier: CA2689809125

Gene: GALT

Linked Data

• gnomAD v4: 9-34648523-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648523G>C , CM000671.2:g.34648523G>C	GRCh38
NC_000009.11:g.34648520G>C , CM000671.1:g.34648520G>C	GRCh37
NC_000009.10:g.34638520G>C	NCBI36
NG_009029.1:g.6886G>C
NG_028966.1:g.1339G>C
NG_009029.2:g.6935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+67G>C	ENSP00000509954.1:n.*275+67G>C
ENST00000378842.8:c.687+67G>C MANE Select	ENSP00000368119.4:n.687+67G>C
ENST00000378842.7:c.687+67G>C	ENSP00000368119.3:n.687+67G>C
ENST00000450095.6:c.360+67G>C	ENSP00000401956.2:n.360+67G>C
ENST00000473506.6:c.*275+67G>C	ENSP00000432839.2:n.*275+67G>C
ENST00000473529.5:n.846+67G>C
ENST00000487381.5:n.1139G>C
ENST00000489643.6:n.529G>C
ENST00000554085.5:c.*431+67G>C	ENSP00000450419.1:n.*431+67G>C
ENST00000554550.5:c.*307+67G>C	ENSP00000451435.1:n.*307+67G>C
ENST00000554638.5:n.1159+67G>C
ENST00000555020.5:n.910G>C
ENST00000555086.5:n.691+67G>C
ENST00000555214.5:n.575G>C
ENST00000555754.1:n.32+67G>C
ENST00000556244.1:c.674+67G>C
ENST00000556278.1:c.432+67G>C	ENSP00000451792.1:n.432+67G>C
ENST00000557706.5:n.1249+67G>C
NM_000155.3:c.687+67G>C	NP_000146.2:n.687+67G>C
NM_001258332.1:c.360+67G>C	NP_001245261.1:n.360+67G>C
NM_000155.4:c.687+67G>C MANE Select	NP_000146.2:n.687+67G>C
NM_001258332.2:c.360+67G>C	NP_001245261.1:n.360+67G>C