Canonical Allele Identifier: CA373284014

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648877C>A (hg19) ; chr9:g.34648880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648880C>A , CM000671.2:g.34648880C>A	GRCh38
NC_000009.11:g.34648877C>A , CM000671.1:g.34648877C>A	GRCh37
NC_000009.10:g.34638877C>A	NCBI36
NG_009029.1:g.7243C>A
NG_028966.1:g.1696C>A
NG_009029.2:g.7292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*394C>A	ENSP00000509954.1:n.*394C>A
ENST00000378842.8:c.806C>A MANE Select	ENSP00000368119.4:p.Pro269His
ENST00000378842.7:c.806C>A	ENSP00000368119.3:p.Pro269His
ENST00000450095.6:c.479C>A	ENSP00000401956.2:p.Pro160His
ENST00000473506.6:c.*394C>A	ENSP00000432839.2:n.*394C>A
ENST00000489643.6:n.886C>A
ENST00000554085.5:c.*550C>A	ENSP00000450419.1:n.*550C>A
ENST00000554550.5:c.*426C>A	ENSP00000451435.1:n.*426C>A
ENST00000554638.5:n.1278C>A
ENST00000555020.5:n.1267C>A
ENST00000555086.5:n.810C>A
ENST00000555754.1:n.151C>A
ENST00000556244.1:c.793C>A
ENST00000556278.1:c.432+424C>A	ENSP00000451792.1:n.432+424C>A
ENST00000557706.5:n.1368C>A
NM_000155.3:c.806C>A	NP_000146.2:p.Pro269His
NM_001258332.1:c.479C>A	NP_001245261.1:p.Pro160His
NM_000155.4:c.806C>A MANE Select	NP_000146.2:p.Pro269His
NM_001258332.2:c.479C>A	NP_001245261.1:p.Pro160His