Canonical Allele Identifier: CA373282417

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*273A>C	ENSP00000509954.1:n.*273A>C
ENST00000378842.8:c.685A>C MANE Select	ENSP00000368119.4:p.Lys229Gln
ENST00000378842.7:c.685A>C	ENSP00000368119.3:p.Lys229Gln
ENST00000450095.6:c.358A>C	ENSP00000401956.2:p.Lys120Gln
ENST00000472111.5:n.941A>C
ENST00000473506.6:c.*273A>C	ENSP00000432839.2:n.*273A>C
ENST00000473529.5:n.844A>C
ENST00000487381.5:n.1070A>C
ENST00000489643.6:n.460A>C
ENST00000554085.5:c.*429A>C	ENSP00000450419.1:n.*429A>C
ENST00000554550.5:c.*305A>C	ENSP00000451435.1:n.*305A>C
ENST00000554638.5:n.1157A>C
ENST00000555020.5:n.841A>C
ENST00000555086.5:n.689A>C
ENST00000555214.5:n.506A>C
ENST00000555754.1:n.30A>C
ENST00000556244.1:c.672A>C
ENST00000556278.1:c.430A>C	ENSP00000451792.1:p.Lys144Gln
ENST00000556494.5:n.806A>C
ENST00000557706.5:n.1247A>C
NM_000155.3:c.685A>C	NP_000146.2:p.Lys229Gln
NM_001258332.1:c.358A>C	NP_001245261.1:p.Lys120Gln
NM_000155.4:c.685A>C MANE Select	NP_000146.2:p.Lys229Gln
NM_001258332.2:c.358A>C	NP_001245261.1:p.Lys120Gln