Canonical Allele Identifier: CA373282429

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648452A>T (hg19) ; chr9:g.34648455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648455A>T , CM000671.2:g.34648455A>T	GRCh38
NC_000009.11:g.34648452A>T , CM000671.1:g.34648452A>T	GRCh37
NC_000009.10:g.34638452A>T	NCBI36
NG_009029.1:g.6818A>T
NG_028966.1:g.1271A>T
NG_009029.2:g.6867A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*274A>T	ENSP00000509954.1:n.*274A>T
ENST00000378842.8:c.686A>T MANE Select	ENSP00000368119.4:p.Lys229Met
ENST00000378842.7:c.686A>T	ENSP00000368119.3:p.Lys229Met
ENST00000450095.6:c.359A>T	ENSP00000401956.2:p.Lys120Met
ENST00000472111.5:n.942A>T
ENST00000473506.6:c.*274A>T	ENSP00000432839.2:n.*274A>T
ENST00000473529.5:n.845A>T
ENST00000487381.5:n.1071A>T
ENST00000489643.6:n.461A>T
ENST00000554085.5:c.*430A>T	ENSP00000450419.1:n.*430A>T
ENST00000554550.5:c.*306A>T	ENSP00000451435.1:n.*306A>T
ENST00000554638.5:n.1158A>T
ENST00000555020.5:n.842A>T
ENST00000555086.5:n.690A>T
ENST00000555214.5:n.507A>T
ENST00000555754.1:n.31A>T
ENST00000556244.1:c.673A>T
ENST00000556278.1:c.431A>T	ENSP00000451792.1:p.Lys144Met
ENST00000556494.5:n.807A>T
ENST00000557706.5:n.1248A>T
NM_000155.3:c.686A>T	NP_000146.2:p.Lys229Met
NM_001258332.1:c.359A>T	NP_001245261.1:p.Lys120Met
NM_000155.4:c.686A>T MANE Select	NP_000146.2:p.Lys229Met
NM_001258332.2:c.359A>T	NP_001245261.1:p.Lys120Met