Canonical Allele Identifier: CA464402924

Gene: GALT

Linked Data

• dbSNP Id: rs1821175646
• MyVariant Identifiers: chr9:g.34648776C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648779C>T , CM000671.2:g.34648779C>T	GRCh38
NC_000009.11:g.34648776C>T , CM000671.1:g.34648776C>T	GRCh37
NC_000009.10:g.34638776C>T	NCBI36
NG_009029.1:g.7142C>T
NG_028966.1:g.1595C>T
NG_009029.2:g.7191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*293C>T	ENSP00000509954.1:n.*293C>T
ENST00000378842.8:c.705C>T MANE Select	ENSP00000368119.4:p.Thr235=
ENST00000378842.7:c.705C>T	ENSP00000368119.3:p.Thr235=
ENST00000450095.6:c.378C>T	ENSP00000401956.2:p.Thr126=
ENST00000473506.6:c.*293C>T	ENSP00000432839.2:n.*293C>T
ENST00000473529.5:n.864C>T
ENST00000487381.5:n.1395C>T
ENST00000489643.6:n.785C>T
ENST00000554085.5:c.*449C>T	ENSP00000450419.1:n.*449C>T
ENST00000554550.5:c.*325C>T	ENSP00000451435.1:n.*325C>T
ENST00000554638.5:n.1177C>T
ENST00000555020.5:n.1166C>T
ENST00000555086.5:n.709C>T
ENST00000555754.1:n.50C>T
ENST00000556244.1:c.692C>T
ENST00000556278.1:c.432+323C>T	ENSP00000451792.1:n.432+323C>T
ENST00000557706.5:n.1267C>T
NM_000155.3:c.705C>T	NP_000146.2:p.Thr235=
NM_001258332.1:c.378C>T	NP_001245261.1:p.Thr126=
NM_000155.4:c.705C>T MANE Select	NP_000146.2:p.Thr235=
NM_001258332.2:c.378C>T	NP_001245261.1:p.Thr126=