Canonical Allele Identifier: CA464403011

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648800C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648803C>T , CM000671.2:g.34648803C>T	GRCh38
NC_000009.11:g.34648800C>T , CM000671.1:g.34648800C>T	GRCh37
NC_000009.10:g.34638800C>T	NCBI36
NG_009029.1:g.7166C>T
NG_028966.1:g.1619C>T
NG_009029.2:g.7215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*317C>T	ENSP00000509954.1:n.*317C>T
ENST00000378842.8:c.729C>T MANE Select	ENSP00000368119.4:p.Val243=
ENST00000378842.7:c.729C>T	ENSP00000368119.3:p.Val243=
ENST00000450095.6:c.402C>T	ENSP00000401956.2:p.Val134=
ENST00000473506.6:c.*317C>T	ENSP00000432839.2:n.*317C>T
ENST00000473529.5:n.888C>T
ENST00000487381.5:n.1419C>T
ENST00000489643.6:n.809C>T
ENST00000554085.5:c.*473C>T	ENSP00000450419.1:n.*473C>T
ENST00000554550.5:c.*349C>T	ENSP00000451435.1:n.*349C>T
ENST00000554638.5:n.1201C>T
ENST00000555020.5:n.1190C>T
ENST00000555086.5:n.733C>T
ENST00000555754.1:n.74C>T
ENST00000556244.1:c.716C>T
ENST00000556278.1:c.432+347C>T	ENSP00000451792.1:n.432+347C>T
ENST00000557706.5:n.1291C>T
NM_000155.3:c.729C>T	NP_000146.2:p.Val243=
NM_001258332.1:c.402C>T	NP_001245261.1:p.Val134=
NM_000155.4:c.729C>T MANE Select	NP_000146.2:p.Val243=
NM_001258332.2:c.402C>T	NP_001245261.1:p.Val134=