Canonical Allele Identifier: CA464403111

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648830A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648833A>C , CM000671.2:g.34648833A>C	GRCh38
NC_000009.11:g.34648830A>C , CM000671.1:g.34648830A>C	GRCh37
NC_000009.10:g.34638830A>C	NCBI36
NG_009029.1:g.7196A>C
NG_028966.1:g.1649A>C
NG_009029.2:g.7245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*347A>C	ENSP00000509954.1:n.*347A>C
ENST00000378842.8:c.759A>C MANE Select	ENSP00000368119.4:p.Thr253=
ENST00000378842.7:c.759A>C	ENSP00000368119.3:p.Thr253=
ENST00000450095.6:c.432A>C	ENSP00000401956.2:p.Thr144=
ENST00000473506.6:c.*347A>C	ENSP00000432839.2:n.*347A>C
ENST00000489643.6:n.839A>C
ENST00000554085.5:c.*503A>C	ENSP00000450419.1:n.*503A>C
ENST00000554550.5:c.*379A>C	ENSP00000451435.1:n.*379A>C
ENST00000554638.5:n.1231A>C
ENST00000555020.5:n.1220A>C
ENST00000555086.5:n.763A>C
ENST00000555754.1:n.104A>C
ENST00000556244.1:c.746A>C
ENST00000556278.1:c.432+377A>C	ENSP00000451792.1:n.432+377A>C
ENST00000557706.5:n.1321A>C
NM_000155.3:c.759A>C	NP_000146.2:p.Thr253=
NM_001258332.1:c.432A>C	NP_001245261.1:p.Thr144=
NM_000155.4:c.759A>C MANE Select	NP_000146.2:p.Thr253=
NM_001258332.2:c.432A>C	NP_001245261.1:p.Thr144=