Canonical Allele Identifier: CA373281961

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648361G>T (hg19) ; chr9:g.34648364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648364G>T , CM000671.2:g.34648364G>T	GRCh38
NC_000009.11:g.34648361G>T , CM000671.1:g.34648361G>T	GRCh37
NC_000009.10:g.34638361G>T	NCBI36
NG_009029.1:g.6727G>T
NG_028966.1:g.1180G>T
NG_009029.2:g.6776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*183G>T	ENSP00000509954.1:n.*183G>T
ENST00000378842.8:c.595G>T MANE Select	ENSP00000368119.4:p.Ala199Ser
ENST00000378842.7:c.595G>T	ENSP00000368119.3:p.Ala199Ser
ENST00000450095.6:c.268G>T	ENSP00000401956.2:p.Ala90Ser
ENST00000472111.5:n.851G>T
ENST00000473506.6:c.*183G>T	ENSP00000432839.2:n.*183G>T
ENST00000473529.5:n.754G>T
ENST00000485531.1:n.1189G>T
ENST00000487381.5:n.980G>T
ENST00000489643.6:n.370G>T
ENST00000554085.5:c.*339G>T	ENSP00000450419.1:n.*339G>T
ENST00000554139.5:n.841G>T
ENST00000554550.5:c.*215G>T	ENSP00000451435.1:n.*215G>T
ENST00000554638.5:n.1067G>T
ENST00000554897.5:c.*282G>T	ENSP00000450942.1:n.*282G>T
ENST00000554944.5:n.944G>T
ENST00000555020.5:n.751G>T
ENST00000555086.5:n.599G>T
ENST00000555214.5:n.416G>T
ENST00000556244.1:c.582G>T
ENST00000556278.1:c.340G>T	ENSP00000451792.1:p.Ala114Ser
ENST00000556494.5:n.716G>T
ENST00000557706.5:n.1157G>T
NM_000155.3:c.595G>T	NP_000146.2:p.Ala199Ser
NM_001258332.1:c.268G>T	NP_001245261.1:p.Ala90Ser
NM_000155.4:c.595G>T MANE Select	NP_000146.2:p.Ala199Ser
NM_001258332.2:c.268G>T	NP_001245261.1:p.Ala90Ser