Canonical Allele Identifier: CA373284322

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649033G>T (hg19) ; chr9:g.34649036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649036G>T , CM000671.2:g.34649036G>T	GRCh38
NC_000009.11:g.34649033G>T , CM000671.1:g.34649033G>T	GRCh37
NC_000009.10:g.34639033G>T	NCBI36
NG_009029.1:g.7399G>T
NG_028966.1:g.1852G>T
NG_009029.2:g.7448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*447G>T	ENSP00000509954.1:n.*447G>T
ENST00000378842.8:c.859G>T MANE Select	ENSP00000368119.4:p.Asp287Tyr
ENST00000378842.7:c.859G>T	ENSP00000368119.3:p.Asp287Tyr
ENST00000450095.6:c.532G>T	ENSP00000401956.2:p.Asp178Tyr
ENST00000488412.2:n.115G>T
ENST00000489643.6:n.939G>T
ENST00000554550.5:c.*479G>T	ENSP00000451435.1:n.*479G>T
ENST00000554638.5:n.1331G>T
ENST00000555020.5:n.1320G>T
ENST00000555086.5:n.966G>T
ENST00000555754.1:n.307G>T
ENST00000556278.1:c.432+580G>T	ENSP00000451792.1:n.432+580G>T
ENST00000557706.5:n.1434G>T
NM_000155.3:c.859G>T	NP_000146.2:p.Asp287Tyr
NM_001258332.1:c.532G>T	NP_001245261.1:p.Asp178Tyr
NM_000155.4:c.859G>T MANE Select	NP_000146.2:p.Asp287Tyr
NM_001258332.2:c.532G>T	NP_001245261.1:p.Asp178Tyr