Canonical Allele Identifier: CA464402270

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648420A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648423A>C , CM000671.2:g.34648423A>C	GRCh38
NC_000009.11:g.34648420A>C , CM000671.1:g.34648420A>C	GRCh37
NC_000009.10:g.34638420A>C	NCBI36
NG_009029.1:g.6786A>C
NG_028966.1:g.1239A>C
NG_009029.2:g.6835A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*242A>C	ENSP00000509954.1:n.*242A>C
ENST00000378842.8:c.654A>C MANE Select	ENSP00000368119.4:p.Leu218=
ENST00000378842.7:c.654A>C	ENSP00000368119.3:p.Leu218=
ENST00000450095.6:c.327A>C	ENSP00000401956.2:p.Leu109=
ENST00000472111.5:n.910A>C
ENST00000473506.6:c.*242A>C	ENSP00000432839.2:n.*242A>C
ENST00000473529.5:n.813A>C
ENST00000487381.5:n.1039A>C
ENST00000489643.6:n.429A>C
ENST00000554085.5:c.*398A>C	ENSP00000450419.1:n.*398A>C
ENST00000554550.5:c.*274A>C	ENSP00000451435.1:n.*274A>C
ENST00000554638.5:n.1126A>C
ENST00000555020.5:n.810A>C
ENST00000555086.5:n.658A>C
ENST00000555214.5:n.475A>C
ENST00000556244.1:c.641A>C
ENST00000556278.1:c.399A>C	ENSP00000451792.1:p.Leu133=
ENST00000556494.5:n.775A>C
ENST00000557706.5:n.1216A>C
NM_000155.3:c.654A>C	NP_000146.2:p.Leu218=
NM_001258332.1:c.327A>C	NP_001245261.1:p.Leu109=
NM_000155.4:c.654A>C MANE Select	NP_000146.2:p.Leu218=
NM_001258332.2:c.327A>C	NP_001245261.1:p.Leu109=