Canonical Allele Identifier: CA373283383

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648774A>T (hg19) ; chr9:g.34648777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648777A>T , CM000671.2:g.34648777A>T	GRCh38
NC_000009.11:g.34648774A>T , CM000671.1:g.34648774A>T	GRCh37
NC_000009.10:g.34638774A>T	NCBI36
NG_009029.1:g.7140A>T
NG_028966.1:g.1593A>T
NG_009029.2:g.7189A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*291A>T	ENSP00000509954.1:n.*291A>T
ENST00000378842.8:c.703A>T MANE Select	ENSP00000368119.4:p.Thr235Ser
ENST00000378842.7:c.703A>T	ENSP00000368119.3:p.Thr235Ser
ENST00000450095.6:c.376A>T	ENSP00000401956.2:p.Thr126Ser
ENST00000473506.6:c.*291A>T	ENSP00000432839.2:n.*291A>T
ENST00000473529.5:n.862A>T
ENST00000487381.5:n.1393A>T
ENST00000489643.6:n.783A>T
ENST00000554085.5:c.*447A>T	ENSP00000450419.1:n.*447A>T
ENST00000554550.5:c.*323A>T	ENSP00000451435.1:n.*323A>T
ENST00000554638.5:n.1175A>T
ENST00000555020.5:n.1164A>T
ENST00000555086.5:n.707A>T
ENST00000555754.1:n.48A>T
ENST00000556244.1:c.690A>T
ENST00000556278.1:c.432+321A>T	ENSP00000451792.1:n.432+321A>T
ENST00000557706.5:n.1265A>T
NM_000155.3:c.703A>T	NP_000146.2:p.Thr235Ser
NM_001258332.1:c.376A>T	NP_001245261.1:p.Thr126Ser
NM_000155.4:c.703A>T MANE Select	NP_000146.2:p.Thr235Ser
NM_001258332.2:c.376A>T	NP_001245261.1:p.Thr126Ser