Canonical Allele Identifier: CA373278902

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647246C>T (hg19) ; chr9:g.34647249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647249C>T , CM000671.2:g.34647249C>T	GRCh38
NC_000009.11:g.34647246C>T , CM000671.1:g.34647246C>T	GRCh37
NC_000009.10:g.34637246C>T	NCBI36
NG_009029.1:g.5612C>T
NG_028966.1:g.65C>T
NG_009029.2:g.5661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.243C>T	ENSP00000509954.1:p.Ala81=
ENST00000378842.8:c.243C>T MANE Select	ENSP00000368119.4:p.Ala81=
ENST00000378842.7:c.243C>T	ENSP00000368119.3:p.Ala81=
ENST00000450095.6:c.41C>T	ENSP00000401956.2:p.Pro14Leu
ENST00000465543.6:n.582C>T
ENST00000468099.2:n.283C>T
ENST00000472111.5:n.284C>T
ENST00000473506.6:c.243C>T	ENSP00000432839.2:p.Ala81=
ENST00000473529.5:n.290C>T
ENST00000485531.1:n.236C>T
ENST00000487381.5:n.269C>T
ENST00000489643.6:n.273C>T
ENST00000554085.5:c.243C>T	ENSP00000450419.1:p.Ala81=
ENST00000554139.5:n.296C>T
ENST00000554330.5:n.240C>T
ENST00000554550.5:c.243C>T	ENSP00000451435.1:p.Ala81=
ENST00000554638.5:n.267C>T
ENST00000554897.5:c.243C>T	ENSP00000450942.1:p.Ala81=
ENST00000554944.5:n.273C>T
ENST00000555020.5:n.273C>T
ENST00000555086.5:n.247C>T
ENST00000555214.5:n.252C>T
ENST00000556157.1:n.350C>T
ENST00000556244.1:c.127C>T
ENST00000556278.1:c.243C>T	ENSP00000451792.1:p.Ala81=
ENST00000556403.5:n.256C>T
ENST00000556494.5:n.275C>T
ENST00000557541.5:n.436C>T
ENST00000557706.5:n.357C>T
NM_000155.3:c.243C>T	NP_000146.2:p.Ala81=
NM_001258332.1:c.41C>T	NP_001245261.1:p.Pro14Leu
NM_000155.4:c.243C>T MANE Select	NP_000146.2:p.Ala81=
NM_001258332.2:c.41C>T	NP_001245261.1:p.Pro14Leu