Canonical Allele Identifier: CA464401888

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648150C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648153C>T , CM000671.2:g.34648153C>T	GRCh38
NC_000009.11:g.34648150C>T , CM000671.1:g.34648150C>T	GRCh37
NC_000009.10:g.34638150C>T	NCBI36
NG_009029.1:g.6516C>T
NG_028966.1:g.969C>T
NG_009029.2:g.6565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*134C>T	ENSP00000509954.1:n.*134C>T
ENST00000378842.8:c.546C>T MANE Select	ENSP00000368119.4:p.Asn182=
ENST00000378842.7:c.546C>T	ENSP00000368119.3:p.Asn182=
ENST00000450095.6:c.219C>T	ENSP00000401956.2:p.Asn73=
ENST00000465543.6:n.885C>T
ENST00000472111.5:n.802C>T
ENST00000473506.6:c.*134C>T	ENSP00000432839.2:n.*134C>T
ENST00000473529.5:n.705C>T
ENST00000485531.1:n.1140C>T
ENST00000487381.5:n.931C>T
ENST00000489643.6:n.321C>T
ENST00000554085.5:c.*290C>T	ENSP00000450419.1:n.*290C>T
ENST00000554139.5:n.792C>T
ENST00000554550.5:c.*166C>T	ENSP00000451435.1:n.*166C>T
ENST00000554638.5:n.1018C>T
ENST00000554897.5:c.*233C>T	ENSP00000450942.1:n.*233C>T
ENST00000554944.5:n.895C>T
ENST00000555020.5:n.702C>T
ENST00000555086.5:n.550C>T
ENST00000555214.5:n.367C>T
ENST00000556244.1:c.533C>T
ENST00000556278.1:c.291C>T	ENSP00000451792.1:p.Asn97=
ENST00000556494.5:n.667C>T
ENST00000557706.5:n.1108C>T
NM_000155.3:c.546C>T	NP_000146.2:p.Asn182=
NM_001258332.1:c.219C>T	NP_001245261.1:p.Asn73=
NM_000155.4:c.546C>T MANE Select	NP_000146.2:p.Asn182=
NM_001258332.2:c.219C>T	NP_001245261.1:p.Asn73=