Canonical Allele Identifier: CA464404207

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649454C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649457C>T , CM000671.2:g.34649457C>T	GRCh38
NC_000009.11:g.34649454C>T , CM000671.1:g.34649454C>T	GRCh37
NC_000009.10:g.34639454C>T	NCBI36
NG_009029.1:g.7820C>T
NG_028966.1:g.2273C>T
NG_009029.2:g.7869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*540C>T	ENSP00000509954.1:n.*540C>T
ENST00000378842.8:c.952C>T MANE Select	ENSP00000368119.4:p.Leu318=
ENST00000378842.7:c.952C>T	ENSP00000368119.3:p.Leu318=
ENST00000450095.6:c.625C>T	ENSP00000401956.2:p.Leu209=
ENST00000488412.2:n.536C>T
ENST00000489643.6:n.1360C>T
ENST00000554550.5:c.*572C>T	ENSP00000451435.1:n.*572C>T
ENST00000554638.5:n.1424C>T
ENST00000555020.5:n.1741C>T
ENST00000555754.1:n.400C>T
ENST00000556278.1:c.432+1001C>T	ENSP00000451792.1:n.432+1001C>T
ENST00000557706.5:n.1527C>T
NM_000155.3:c.952C>T	NP_000146.2:p.Leu318=
NM_001258332.1:c.625C>T	NP_001245261.1:p.Leu209=
NM_000155.4:c.952C>T MANE Select	NP_000146.2:p.Leu318=
NM_001258332.2:c.625C>T	NP_001245261.1:p.Leu209=