Canonical Allele Identifier: CA373284846

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649453G>C (hg19) ; chr9:g.34649456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649456G>C , CM000671.2:g.34649456G>C	GRCh38
NC_000009.11:g.34649453G>C , CM000671.1:g.34649453G>C	GRCh37
NC_000009.10:g.34639453G>C	NCBI36
NG_009029.1:g.7819G>C
NG_028966.1:g.2272G>C
NG_009029.2:g.7868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*539G>C	ENSP00000509954.1:n.*539G>C
ENST00000378842.8:c.951G>C MANE Select	ENSP00000368119.4:p.Gln317His
ENST00000378842.7:c.951G>C	ENSP00000368119.3:p.Gln317His
ENST00000450095.6:c.624G>C	ENSP00000401956.2:p.Gln208His
ENST00000488412.2:n.535G>C
ENST00000489643.6:n.1359G>C
ENST00000554550.5:c.*571G>C	ENSP00000451435.1:n.*571G>C
ENST00000554638.5:n.1423G>C
ENST00000555020.5:n.1740G>C
ENST00000555754.1:n.399G>C
ENST00000556278.1:c.432+1000G>C	ENSP00000451792.1:n.432+1000G>C
ENST00000557706.5:n.1526G>C
NM_000155.3:c.951G>C	NP_000146.2:p.Gln317His
NM_001258332.1:c.624G>C	NP_001245261.1:p.Gln208His
NM_000155.4:c.951G>C MANE Select	NP_000146.2:p.Gln317His
NM_001258332.2:c.624G>C	NP_001245261.1:p.Gln208His