Canonical Allele Identifier: CA464402250

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648414C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648417C>T , CM000671.2:g.34648417C>T	GRCh38
NC_000009.11:g.34648414C>T , CM000671.1:g.34648414C>T	GRCh37
NC_000009.10:g.34638414C>T	NCBI36
NG_009029.1:g.6780C>T
NG_028966.1:g.1233C>T
NG_009029.2:g.6829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*236C>T	ENSP00000509954.1:n.*236C>T
ENST00000378842.8:c.648C>T MANE Select	ENSP00000368119.4:p.Pro216=
ENST00000378842.7:c.648C>T	ENSP00000368119.3:p.Pro216=
ENST00000450095.6:c.321C>T	ENSP00000401956.2:p.Pro107=
ENST00000472111.5:n.904C>T
ENST00000473506.6:c.*236C>T	ENSP00000432839.2:n.*236C>T
ENST00000473529.5:n.807C>T
ENST00000487381.5:n.1033C>T
ENST00000489643.6:n.423C>T
ENST00000554085.5:c.*392C>T	ENSP00000450419.1:n.*392C>T
ENST00000554550.5:c.*268C>T	ENSP00000451435.1:n.*268C>T
ENST00000554638.5:n.1120C>T
ENST00000555020.5:n.804C>T
ENST00000555086.5:n.652C>T
ENST00000555214.5:n.469C>T
ENST00000556244.1:c.635C>T
ENST00000556278.1:c.393C>T	ENSP00000451792.1:p.Pro131=
ENST00000556494.5:n.769C>T
ENST00000557706.5:n.1210C>T
NM_000155.3:c.648C>T	NP_000146.2:p.Pro216=
NM_001258332.1:c.321C>T	NP_001245261.1:p.Pro107=
NM_000155.4:c.648C>T MANE Select	NP_000146.2:p.Pro216=
NM_001258332.2:c.321C>T	NP_001245261.1:p.Pro107=