Canonical Allele Identifier: CA373284462

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649058C>T (hg19) ; chr9:g.34649061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649061C>T , CM000671.2:g.34649061C>T	GRCh38
NC_000009.11:g.34649058C>T , CM000671.1:g.34649058C>T	GRCh37
NC_000009.10:g.34639058C>T	NCBI36
NG_009029.1:g.7424C>T
NG_028966.1:g.1877C>T
NG_009029.2:g.7473C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*472C>T	ENSP00000509954.1:n.*472C>T
ENST00000378842.8:c.884C>T MANE Select	ENSP00000368119.4:p.Pro295Leu
ENST00000378842.7:c.884C>T	ENSP00000368119.3:p.Pro295Leu
ENST00000450095.6:c.557C>T	ENSP00000401956.2:p.Pro186Leu
ENST00000488412.2:n.140C>T
ENST00000489643.6:n.964C>T
ENST00000554550.5:c.*504C>T	ENSP00000451435.1:n.*504C>T
ENST00000554638.5:n.1356C>T
ENST00000555020.5:n.1345C>T
ENST00000555086.5:n.991C>T
ENST00000555754.1:n.332C>T
ENST00000556278.1:c.432+605C>T	ENSP00000451792.1:n.432+605C>T
ENST00000557706.5:n.1459C>T
NM_000155.3:c.884C>T	NP_000146.2:p.Pro295Leu
NM_001258332.1:c.557C>T	NP_001245261.1:p.Pro186Leu
NM_000155.4:c.884C>T MANE Select	NP_000146.2:p.Pro295Leu
NM_001258332.2:c.557C>T	NP_001245261.1:p.Pro186Leu