Canonical Allele Identifier: CA373283468

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648784A>T (hg19) ; chr9:g.34648787A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648787A>T , CM000671.2:g.34648787A>T	GRCh38
NC_000009.11:g.34648784A>T , CM000671.1:g.34648784A>T	GRCh37
NC_000009.10:g.34638784A>T	NCBI36
NG_009029.1:g.7150A>T
NG_028966.1:g.1603A>T
NG_009029.2:g.7199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*301A>T	ENSP00000509954.1:n.*301A>T
ENST00000378842.8:c.713A>T MANE Select	ENSP00000368119.4:p.His238Leu
ENST00000378842.7:c.713A>T	ENSP00000368119.3:p.His238Leu
ENST00000450095.6:c.386A>T	ENSP00000401956.2:p.His129Leu
ENST00000473506.6:c.*301A>T	ENSP00000432839.2:n.*301A>T
ENST00000473529.5:n.872A>T
ENST00000487381.5:n.1403A>T
ENST00000489643.6:n.793A>T
ENST00000554085.5:c.*457A>T	ENSP00000450419.1:n.*457A>T
ENST00000554550.5:c.*333A>T	ENSP00000451435.1:n.*333A>T
ENST00000554638.5:n.1185A>T
ENST00000555020.5:n.1174A>T
ENST00000555086.5:n.717A>T
ENST00000555754.1:n.58A>T
ENST00000556244.1:c.700A>T
ENST00000556278.1:c.432+331A>T	ENSP00000451792.1:n.432+331A>T
ENST00000557706.5:n.1275A>T
NM_000155.3:c.713A>T	NP_000146.2:p.His238Leu
NM_001258332.1:c.386A>T	NP_001245261.1:p.His129Leu
NM_000155.4:c.713A>T MANE Select	NP_000146.2:p.His238Leu
NM_001258332.2:c.386A>T	NP_001245261.1:p.His129Leu