Canonical Allele Identifier: CA2579371364

Gene: GALT

Linked Data

• gnomAD v4: 9-34648707-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648707C>T , CM000671.2:g.34648707C>T	GRCh38
NC_000009.11:g.34648704C>T , CM000671.1:g.34648704C>T	GRCh37
NC_000009.10:g.34638704C>T	NCBI36
NG_009029.1:g.7070C>T
NG_028966.1:g.1523C>T
NG_009029.2:g.7119C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276-55C>T	ENSP00000509954.1:n.*276-55C>T
ENST00000378842.8:c.688-55C>T MANE Select	ENSP00000368119.4:n.688-55C>T
ENST00000378842.7:c.688-55C>T	ENSP00000368119.3:n.688-55C>T
ENST00000450095.6:c.361-55C>T	ENSP00000401956.2:n.361-55C>T
ENST00000473506.6:c.*276-55C>T	ENSP00000432839.2:n.*276-55C>T
ENST00000473529.5:n.847-55C>T
ENST00000487381.5:n.1323C>T
ENST00000489643.6:n.713C>T
ENST00000554085.5:c.*432-55C>T	ENSP00000450419.1:n.*432-55C>T
ENST00000554550.5:c.*308-55C>T	ENSP00000451435.1:n.*308-55C>T
ENST00000554638.5:n.1160-55C>T
ENST00000555020.5:n.1094C>T
ENST00000555086.5:n.692-55C>T
ENST00000555754.1:n.33-55C>T
ENST00000556244.1:c.675-55C>T
ENST00000556278.1:c.432+251C>T	ENSP00000451792.1:n.432+251C>T
ENST00000557706.5:n.1250-55C>T
NM_000155.3:c.688-55C>T	NP_000146.2:n.688-55C>T
NM_001258332.1:c.361-55C>T	NP_001245261.1:n.361-55C>T
NM_000155.4:c.688-55C>T MANE Select	NP_000146.2:n.688-55C>T
NM_001258332.2:c.361-55C>T	NP_001245261.1:n.361-55C>T