Canonical Allele Identifier: CA373284875

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649458A>T (hg19) ; chr9:g.34649461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649461A>T , CM000671.2:g.34649461A>T	GRCh38
NC_000009.11:g.34649458A>T , CM000671.1:g.34649458A>T	GRCh37
NC_000009.10:g.34639458A>T	NCBI36
NG_009029.1:g.7824A>T
NG_028966.1:g.2277A>T
NG_009029.2:g.7873A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*544A>T	ENSP00000509954.1:n.*544A>T
ENST00000378842.8:c.956A>T MANE Select	ENSP00000368119.4:p.His319Leu
ENST00000378842.7:c.956A>T	ENSP00000368119.3:p.His319Leu
ENST00000450095.6:c.629A>T	ENSP00000401956.2:p.His210Leu
ENST00000488412.2:n.540A>T
ENST00000489643.6:n.1364A>T
ENST00000554550.5:c.*576A>T	ENSP00000451435.1:n.*576A>T
ENST00000554638.5:n.1428A>T
ENST00000555020.5:n.1745A>T
ENST00000555754.1:n.404A>T
ENST00000556278.1:c.432+1005A>T	ENSP00000451792.1:n.432+1005A>T
ENST00000557706.5:n.1531A>T
NM_000155.3:c.956A>T	NP_000146.2:p.His319Leu
NM_001258332.1:c.629A>T	NP_001245261.1:p.His210Leu
NM_000155.4:c.956A>T MANE Select	NP_000146.2:p.His319Leu
NM_001258332.2:c.629A>T	NP_001245261.1:p.His210Leu