Canonical Allele Identifier: CA373281931

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648355G>C (hg19) ; chr9:g.34648358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648358G>C , CM000671.2:g.34648358G>C	GRCh38
NC_000009.11:g.34648355G>C , CM000671.1:g.34648355G>C	GRCh37
NC_000009.10:g.34638355G>C	NCBI36
NG_009029.1:g.6721G>C
NG_028966.1:g.1174G>C
NG_009029.2:g.6770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*177G>C	ENSP00000509954.1:n.*177G>C
ENST00000378842.8:c.589G>C MANE Select	ENSP00000368119.4:p.Asp197His
ENST00000378842.7:c.589G>C	ENSP00000368119.3:p.Asp197His
ENST00000450095.6:c.262G>C	ENSP00000401956.2:p.Asp88His
ENST00000472111.5:n.845G>C
ENST00000473506.6:c.*177G>C	ENSP00000432839.2:n.*177G>C
ENST00000473529.5:n.748G>C
ENST00000485531.1:n.1183G>C
ENST00000487381.5:n.974G>C
ENST00000489643.6:n.364G>C
ENST00000554085.5:c.*333G>C	ENSP00000450419.1:n.*333G>C
ENST00000554139.5:n.835G>C
ENST00000554550.5:c.*209G>C	ENSP00000451435.1:n.*209G>C
ENST00000554638.5:n.1061G>C
ENST00000554897.5:c.*276G>C	ENSP00000450942.1:n.*276G>C
ENST00000554944.5:n.938G>C
ENST00000555020.5:n.745G>C
ENST00000555086.5:n.593G>C
ENST00000555214.5:n.410G>C
ENST00000556244.1:c.576G>C
ENST00000556278.1:c.334G>C	ENSP00000451792.1:p.Asp112His
ENST00000556494.5:n.710G>C
ENST00000557706.5:n.1151G>C
NM_000155.3:c.589G>C	NP_000146.2:p.Asp197His
NM_001258332.1:c.262G>C	NP_001245261.1:p.Asp88His
NM_000155.4:c.589G>C MANE Select	NP_000146.2:p.Asp197His
NM_001258332.2:c.262G>C	NP_001245261.1:p.Asp88His