Canonical Allele Identifier: CA373284751

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649436G>T , CM000671.2:g.34649436G>T	GRCh38
NC_000009.11:g.34649433G>T , CM000671.1:g.34649433G>T	GRCh37
NC_000009.10:g.34639433G>T	NCBI36
NG_009029.1:g.7799G>T
NG_028966.1:g.2252G>T
NG_009029.2:g.7848G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.931G>T MANE Select	NP_000146.2:p.Ala311Ser
ENST00000378842.8:c.931G>T MANE Select	ENSP00000368119.4:p.Ala311Ser
NM_000155.3:c.931G>T	NP_000146.2:p.Ala311Ser
NM_001258332.1:c.604G>T	NP_001245261.1:p.Ala202Ser
NM_001258332.2:c.604G>T	NP_001245261.1:p.Ala202Ser
ENST00000378842.7:c.931G>T	ENSP00000368119.3:p.Ala311Ser
ENST00000450095.6:c.604G>T	ENSP00000401956.2:p.Ala202Ser
ENST00000488412.2:n.515G>T
ENST00000489643.6:n.1339G>T
ENST00000554550.5:c.*551G>T	ENSP00000451435.1:n.*551G>T
ENST00000554638.5:n.1403G>T
ENST00000555020.5:n.1720G>T
ENST00000555754.1:n.379G>T
ENST00000556278.1:c.432+980G>T	ENSP00000451792.1:n.432+980G>T
ENST00000557706.5:n.1506G>T
ENST00000691183.1:c.*519G>T	ENSP00000509954.1:n.*519G>T