Canonical Allele Identifier: CA464403138

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648836G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648839G>C , CM000671.2:g.34648839G>C	GRCh38
NC_000009.11:g.34648836G>C , CM000671.1:g.34648836G>C	GRCh37
NC_000009.10:g.34638836G>C	NCBI36
NG_009029.1:g.7202G>C
NG_028966.1:g.1655G>C
NG_009029.2:g.7251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*353G>C	ENSP00000509954.1:n.*353G>C
ENST00000378842.8:c.765G>C MANE Select	ENSP00000368119.4:p.Leu255=
ENST00000378842.7:c.765G>C	ENSP00000368119.3:p.Leu255=
ENST00000450095.6:c.438G>C	ENSP00000401956.2:p.Leu146=
ENST00000473506.6:c.*353G>C	ENSP00000432839.2:n.*353G>C
ENST00000489643.6:n.845G>C
ENST00000554085.5:c.*509G>C	ENSP00000450419.1:n.*509G>C
ENST00000554550.5:c.*385G>C	ENSP00000451435.1:n.*385G>C
ENST00000554638.5:n.1237G>C
ENST00000555020.5:n.1226G>C
ENST00000555086.5:n.769G>C
ENST00000555754.1:n.110G>C
ENST00000556244.1:c.752G>C
ENST00000556278.1:c.432+383G>C	ENSP00000451792.1:n.432+383G>C
ENST00000557706.5:n.1327G>C
NM_000155.3:c.765G>C	NP_000146.2:p.Leu255=
NM_001258332.1:c.438G>C	NP_001245261.1:p.Leu146=
NM_000155.4:c.765G>C MANE Select	NP_000146.2:p.Leu255=
NM_001258332.2:c.438G>C	NP_001245261.1:p.Leu146=