Canonical Allele Identifier: CA373282422

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648451A>T (hg19) ; chr9:g.34648454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648454A>T , CM000671.2:g.34648454A>T	GRCh38
NC_000009.11:g.34648451A>T , CM000671.1:g.34648451A>T	GRCh37
NC_000009.10:g.34638451A>T	NCBI36
NG_009029.1:g.6817A>T
NG_028966.1:g.1270A>T
NG_009029.2:g.6866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*273A>T	ENSP00000509954.1:n.*273A>T
ENST00000378842.8:c.685A>T MANE Select	ENSP00000368119.4:p.Lys229Ter
ENST00000378842.7:c.685A>T	ENSP00000368119.3:p.Lys229Ter
ENST00000450095.6:c.358A>T	ENSP00000401956.2:p.Lys120Ter
ENST00000472111.5:n.941A>T
ENST00000473506.6:c.*273A>T	ENSP00000432839.2:n.*273A>T
ENST00000473529.5:n.844A>T
ENST00000487381.5:n.1070A>T
ENST00000489643.6:n.460A>T
ENST00000554085.5:c.*429A>T	ENSP00000450419.1:n.*429A>T
ENST00000554550.5:c.*305A>T	ENSP00000451435.1:n.*305A>T
ENST00000554638.5:n.1157A>T
ENST00000555020.5:n.841A>T
ENST00000555086.5:n.689A>T
ENST00000555214.5:n.506A>T
ENST00000555754.1:n.30A>T
ENST00000556244.1:c.672A>T
ENST00000556278.1:c.430A>T	ENSP00000451792.1:p.Lys144Ter
ENST00000556494.5:n.806A>T
ENST00000557706.5:n.1247A>T
NM_000155.3:c.685A>T	NP_000146.2:p.Lys229Ter
NM_001258332.1:c.358A>T	NP_001245261.1:p.Lys120Ter
NM_000155.4:c.685A>T MANE Select	NP_000146.2:p.Lys229Ter
NM_001258332.2:c.358A>T	NP_001245261.1:p.Lys120Ter