Canonical Allele Identifier: CA259493

Gene: GALT

Linked Data

• dbSNP Id: rs111033769
• MyVariant Identifiers: chr9:g.34648827G>T (hg19) ; chr9:g.34648830G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648830G>T , CM000671.2:g.34648830G>T	GRCh38
NC_000009.11:g.34648827G>T , CM000671.1:g.34648827G>T	GRCh37
NC_000009.10:g.34638827G>T	NCBI36
NG_009029.1:g.7193G>T
NG_028966.1:g.1646G>T
NG_009029.2:g.7242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*344G>T	ENSP00000509954.1:n.*344G>T
ENST00000378842.8:c.756G>T MANE Select	ENSP00000368119.4:p.Gln252His
ENST00000378842.7:c.756G>T	ENSP00000368119.3:p.Gln252His
ENST00000450095.6:c.429G>T	ENSP00000401956.2:p.Gln143His
ENST00000473506.6:c.*344G>T	ENSP00000432839.2:n.*344G>T
ENST00000489643.6:n.836G>T
ENST00000554085.5:c.*500G>T	ENSP00000450419.1:n.*500G>T
ENST00000554550.5:c.*376G>T	ENSP00000451435.1:n.*376G>T
ENST00000554638.5:n.1228G>T
ENST00000555020.5:n.1217G>T
ENST00000555086.5:n.760G>T
ENST00000555754.1:n.101G>T
ENST00000556244.1:c.743G>T
ENST00000556278.1:c.432+374G>T	ENSP00000451792.1:n.432+374G>T
ENST00000557706.5:n.1318G>T
NM_000155.3:c.756G>T	NP_000146.2:p.Gln252His
NM_001258332.1:c.429G>T	NP_001245261.1:p.Gln143His
NM_000155.4:c.756G>T MANE Select	NP_000146.2:p.Gln252His
NM_001258332.2:c.429G>T	NP_001245261.1:p.Gln143His