Canonical Allele Identifier: CA373283810

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648823A>T (hg19) ; chr9:g.34648826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648826A>T , CM000671.2:g.34648826A>T	GRCh38
NC_000009.11:g.34648823A>T , CM000671.1:g.34648823A>T	GRCh37
NC_000009.10:g.34638823A>T	NCBI36
NG_009029.1:g.7189A>T
NG_028966.1:g.1642A>T
NG_009029.2:g.7238A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*340A>T	ENSP00000509954.1:n.*340A>T
ENST00000378842.8:c.752A>T MANE Select	ENSP00000368119.4:p.Tyr251Phe
ENST00000378842.7:c.752A>T	ENSP00000368119.3:p.Tyr251Phe
ENST00000450095.6:c.425A>T	ENSP00000401956.2:p.Tyr142Phe
ENST00000473506.6:c.*340A>T	ENSP00000432839.2:n.*340A>T
ENST00000473529.5:n.911A>T
ENST00000487381.5:n.1442A>T
ENST00000489643.6:n.832A>T
ENST00000554085.5:c.*496A>T	ENSP00000450419.1:n.*496A>T
ENST00000554550.5:c.*372A>T	ENSP00000451435.1:n.*372A>T
ENST00000554638.5:n.1224A>T
ENST00000555020.5:n.1213A>T
ENST00000555086.5:n.756A>T
ENST00000555754.1:n.97A>T
ENST00000556244.1:c.739A>T
ENST00000556278.1:c.432+370A>T	ENSP00000451792.1:n.432+370A>T
ENST00000557706.5:n.1314A>T
NM_000155.3:c.752A>T	NP_000146.2:p.Tyr251Phe
NM_001258332.1:c.425A>T	NP_001245261.1:p.Tyr142Phe
NM_000155.4:c.752A>T MANE Select	NP_000146.2:p.Tyr251Phe
NM_001258332.2:c.425A>T	NP_001245261.1:p.Tyr142Phe