Canonical Allele Identifier: CA373283848

Gene: GALT

Linked Data

• dbSNP Id: rs1821176891
• MyVariant Identifiers: chr9:g.34648829C>T (hg19) ; chr9:g.34648832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648832C>T , CM000671.2:g.34648832C>T	GRCh38
NC_000009.11:g.34648829C>T , CM000671.1:g.34648829C>T	GRCh37
NC_000009.10:g.34638829C>T	NCBI36
NG_009029.1:g.7195C>T
NG_028966.1:g.1648C>T
NG_009029.2:g.7244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*346C>T	ENSP00000509954.1:n.*346C>T
ENST00000378842.8:c.758C>T MANE Select	ENSP00000368119.4:p.Thr253Ile
ENST00000378842.7:c.758C>T	ENSP00000368119.3:p.Thr253Ile
ENST00000450095.6:c.431C>T	ENSP00000401956.2:p.Thr144Ile
ENST00000473506.6:c.*346C>T	ENSP00000432839.2:n.*346C>T
ENST00000489643.6:n.838C>T
ENST00000554085.5:c.*502C>T	ENSP00000450419.1:n.*502C>T
ENST00000554550.5:c.*378C>T	ENSP00000451435.1:n.*378C>T
ENST00000554638.5:n.1230C>T
ENST00000555020.5:n.1219C>T
ENST00000555086.5:n.762C>T
ENST00000555754.1:n.103C>T
ENST00000556244.1:c.745C>T
ENST00000556278.1:c.432+376C>T	ENSP00000451792.1:n.432+376C>T
ENST00000557706.5:n.1320C>T
NM_000155.3:c.758C>T	NP_000146.2:p.Thr253Ile
NM_001258332.1:c.431C>T	NP_001245261.1:p.Thr144Ile
NM_000155.4:c.758C>T MANE Select	NP_000146.2:p.Thr253Ile
NM_001258332.2:c.431C>T	NP_001245261.1:p.Thr144Ile