Canonical Allele Identifier: CA2689809074

Gene: GALT

Linked Data

• gnomAD v4: 9-34648485-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648485A>T , CM000671.2:g.34648485A>T	GRCh38
NC_000009.11:g.34648482A>T , CM000671.1:g.34648482A>T	GRCh37
NC_000009.10:g.34638482A>T	NCBI36
NG_009029.1:g.6848A>T
NG_028966.1:g.1301A>T
NG_009029.2:g.6897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+29A>T	ENSP00000509954.1:n.*275+29A>T
ENST00000378842.8:c.687+29A>T MANE Select	ENSP00000368119.4:n.687+29A>T
ENST00000378842.7:c.687+29A>T	ENSP00000368119.3:n.687+29A>T
ENST00000450095.6:c.360+29A>T	ENSP00000401956.2:n.360+29A>T
ENST00000472111.5:n.972A>T
ENST00000473506.6:c.*275+29A>T	ENSP00000432839.2:n.*275+29A>T
ENST00000473529.5:n.846+29A>T
ENST00000487381.5:n.1101A>T
ENST00000489643.6:n.491A>T
ENST00000554085.5:c.*431+29A>T	ENSP00000450419.1:n.*431+29A>T
ENST00000554550.5:c.*307+29A>T	ENSP00000451435.1:n.*307+29A>T
ENST00000554638.5:n.1159+29A>T
ENST00000555020.5:n.872A>T
ENST00000555086.5:n.691+29A>T
ENST00000555214.5:n.537A>T
ENST00000555754.1:n.32+29A>T
ENST00000556244.1:c.674+29A>T
ENST00000556278.1:c.432+29A>T	ENSP00000451792.1:n.432+29A>T
ENST00000556494.5:n.837A>T
ENST00000557706.5:n.1249+29A>T
NM_000155.3:c.687+29A>T	NP_000146.2:n.687+29A>T
NM_001258332.1:c.360+29A>T	NP_001245261.1:n.360+29A>T
NM_000155.4:c.687+29A>T MANE Select	NP_000146.2:n.687+29A>T
NM_001258332.2:c.360+29A>T	NP_001245261.1:n.360+29A>T