Canonical Allele Identifier: CA373283950

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648864C>T (hg19) ; chr9:g.34648867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648867C>T , CM000671.2:g.34648867C>T	GRCh38
NC_000009.11:g.34648864C>T , CM000671.1:g.34648864C>T	GRCh37
NC_000009.10:g.34638864C>T	NCBI36
NG_009029.1:g.7230C>T
NG_028966.1:g.1683C>T
NG_009029.2:g.7279C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*381C>T	ENSP00000509954.1:n.*381C>T
ENST00000378842.8:c.793C>T MANE Select	ENSP00000368119.4:p.Pro265Ser
ENST00000378842.7:c.793C>T	ENSP00000368119.3:p.Pro265Ser
ENST00000450095.6:c.466C>T	ENSP00000401956.2:p.Pro156Ser
ENST00000473506.6:c.*381C>T	ENSP00000432839.2:n.*381C>T
ENST00000489643.6:n.873C>T
ENST00000554085.5:c.*537C>T	ENSP00000450419.1:n.*537C>T
ENST00000554550.5:c.*413C>T	ENSP00000451435.1:n.*413C>T
ENST00000554638.5:n.1265C>T
ENST00000555020.5:n.1254C>T
ENST00000555086.5:n.797C>T
ENST00000555754.1:n.138C>T
ENST00000556244.1:c.780C>T
ENST00000556278.1:c.432+411C>T	ENSP00000451792.1:n.432+411C>T
ENST00000557706.5:n.1355C>T
NM_000155.3:c.793C>T	NP_000146.2:p.Pro265Ser
NM_001258332.1:c.466C>T	NP_001245261.1:p.Pro156Ser
NM_000155.4:c.793C>T MANE Select	NP_000146.2:p.Pro265Ser
NM_001258332.2:c.466C>T	NP_001245261.1:p.Pro156Ser