Canonical Allele Identifier: CA2526173101

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648916C>T , CM000671.2:g.34648916C>T	GRCh38
NC_000009.11:g.34648913C>T , CM000671.1:g.34648913C>T	GRCh37
NC_000009.10:g.34638913C>T	NCBI36
NG_009029.1:g.7279C>T
NG_028966.1:g.1732C>T
NG_009029.2:g.7328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+22C>T	ENSP00000509954.1:n.*408+22C>T
ENST00000378842.8:c.820+22C>T MANE Select	ENSP00000368119.4:n.820+22C>T
ENST00000378842.7:c.820+22C>T	ENSP00000368119.3:n.820+22C>T
ENST00000450095.6:c.493+22C>T	ENSP00000401956.2:n.493+22C>T
ENST00000489643.6:n.900+22C>T
ENST00000554085.5:c.*564+22C>T	ENSP00000450419.1:n.*564+22C>T
ENST00000554550.5:c.*440+22C>T	ENSP00000451435.1:n.*440+22C>T
ENST00000554638.5:n.1292+22C>T
ENST00000555020.5:n.1281+22C>T
ENST00000555086.5:n.846C>T
ENST00000555754.1:n.187C>T
ENST00000556278.1:c.432+460C>T	ENSP00000451792.1:n.432+460C>T
ENST00000557706.5:n.1395+9C>T
NM_000155.3:c.820+22C>T	NP_000146.2:n.820+22C>T
NM_001258332.1:c.493+22C>T	NP_001245261.1:n.493+22C>T
NM_000155.4:c.820+22C>T MANE Select	NP_000146.2:n.820+22C>T
NM_001258332.2:c.493+22C>T	NP_001245261.1:n.493+22C>T