Canonical Allele Identifier: CA373283515

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648787G>T (hg19) ; chr9:g.34648790G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648790G>T , CM000671.2:g.34648790G>T	GRCh38
NC_000009.11:g.34648787G>T , CM000671.1:g.34648787G>T	GRCh37
NC_000009.10:g.34638787G>T	NCBI36
NG_009029.1:g.7153G>T
NG_028966.1:g.1606G>T
NG_009029.2:g.7202G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*304G>T	ENSP00000509954.1:n.*304G>T
ENST00000378842.8:c.716G>T MANE Select	ENSP00000368119.4:p.Trp239Leu
ENST00000378842.7:c.716G>T	ENSP00000368119.3:p.Trp239Leu
ENST00000450095.6:c.389G>T	ENSP00000401956.2:p.Trp130Leu
ENST00000473506.6:c.*304G>T	ENSP00000432839.2:n.*304G>T
ENST00000473529.5:n.875G>T
ENST00000487381.5:n.1406G>T
ENST00000489643.6:n.796G>T
ENST00000554085.5:c.*460G>T	ENSP00000450419.1:n.*460G>T
ENST00000554550.5:c.*336G>T	ENSP00000451435.1:n.*336G>T
ENST00000554638.5:n.1188G>T
ENST00000555020.5:n.1177G>T
ENST00000555086.5:n.720G>T
ENST00000555754.1:n.61G>T
ENST00000556244.1:c.703G>T
ENST00000556278.1:c.432+334G>T	ENSP00000451792.1:n.432+334G>T
ENST00000557706.5:n.1278G>T
NM_000155.3:c.716G>T	NP_000146.2:p.Trp239Leu
NM_001258332.1:c.389G>T	NP_001245261.1:p.Trp130Leu
NM_000155.4:c.716G>T MANE Select	NP_000146.2:p.Trp239Leu
NM_001258332.2:c.389G>T	NP_001245261.1:p.Trp130Leu