Canonical Allele Identifier: CA373283841

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648828A>G (hg19) ; chr9:g.34648831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648831A>G , CM000671.2:g.34648831A>G	GRCh38
NC_000009.11:g.34648828A>G , CM000671.1:g.34648828A>G	GRCh37
NC_000009.10:g.34638828A>G	NCBI36
NG_009029.1:g.7194A>G
NG_028966.1:g.1647A>G
NG_009029.2:g.7243A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*345A>G	ENSP00000509954.1:n.*345A>G
ENST00000378842.8:c.757A>G MANE Select	ENSP00000368119.4:p.Thr253Ala
ENST00000378842.7:c.757A>G	ENSP00000368119.3:p.Thr253Ala
ENST00000450095.6:c.430A>G	ENSP00000401956.2:p.Thr144Ala
ENST00000473506.6:c.*345A>G	ENSP00000432839.2:n.*345A>G
ENST00000489643.6:n.837A>G
ENST00000554085.5:c.*501A>G	ENSP00000450419.1:n.*501A>G
ENST00000554550.5:c.*377A>G	ENSP00000451435.1:n.*377A>G
ENST00000554638.5:n.1229A>G
ENST00000555020.5:n.1218A>G
ENST00000555086.5:n.761A>G
ENST00000555754.1:n.102A>G
ENST00000556244.1:c.744A>G
ENST00000556278.1:c.432+375A>G	ENSP00000451792.1:n.432+375A>G
ENST00000557706.5:n.1319A>G
NM_000155.3:c.757A>G	NP_000146.2:p.Thr253Ala
NM_001258332.1:c.430A>G	NP_001245261.1:p.Thr144Ala
NM_000155.4:c.757A>G MANE Select	NP_000146.2:p.Thr253Ala
NM_001258332.2:c.430A>G	NP_001245261.1:p.Thr144Ala