Canonical Allele Identifier: CA373281963

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*183G>C	ENSP00000509954.1:n.*183G>C
ENST00000378842.8:c.595G>C MANE Select	ENSP00000368119.4:p.Ala199Pro
ENST00000378842.7:c.595G>C	ENSP00000368119.3:p.Ala199Pro
ENST00000450095.6:c.268G>C	ENSP00000401956.2:p.Ala90Pro
ENST00000472111.5:n.851G>C
ENST00000473506.6:c.*183G>C	ENSP00000432839.2:n.*183G>C
ENST00000473529.5:n.754G>C
ENST00000485531.1:n.1189G>C
ENST00000487381.5:n.980G>C
ENST00000489643.6:n.370G>C
ENST00000554085.5:c.*339G>C	ENSP00000450419.1:n.*339G>C
ENST00000554139.5:n.841G>C
ENST00000554550.5:c.*215G>C	ENSP00000451435.1:n.*215G>C
ENST00000554638.5:n.1067G>C
ENST00000554897.5:c.*282G>C	ENSP00000450942.1:n.*282G>C
ENST00000554944.5:n.944G>C
ENST00000555020.5:n.751G>C
ENST00000555086.5:n.599G>C
ENST00000555214.5:n.416G>C
ENST00000556244.1:c.582G>C
ENST00000556278.1:c.340G>C	ENSP00000451792.1:p.Ala114Pro
ENST00000556494.5:n.716G>C
ENST00000557706.5:n.1157G>C
NM_000155.3:c.595G>C	NP_000146.2:p.Ala199Pro
NM_001258332.1:c.268G>C	NP_001245261.1:p.Ala90Pro
NM_000155.4:c.595G>C MANE Select	NP_000146.2:p.Ala199Pro
NM_001258332.2:c.268G>C	NP_001245261.1:p.Ala90Pro