Canonical Allele Identifier: CA373280071

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647549G>C (hg19) ; chr9:g.34647552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647552G>C , CM000671.2:g.34647552G>C	GRCh38
NC_000009.11:g.34647549G>C , CM000671.1:g.34647549G>C	GRCh37
NC_000009.10:g.34637549G>C	NCBI36
NG_009029.1:g.5915G>C
NG_028966.1:g.368G>C
NG_009029.2:g.5964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.313G>C	ENSP00000509954.1:p.Asp105His
ENST00000378842.8:c.313G>C MANE Select	ENSP00000368119.4:p.Asp105His
ENST00000378842.7:c.313G>C	ENSP00000368119.3:p.Asp105His
ENST00000450095.6:c.51-280G>C	ENSP00000401956.2:n.51-280G>C
ENST00000465543.6:n.652G>C
ENST00000472111.5:n.354G>C
ENST00000473506.6:c.264G>C	ENSP00000432839.2:p.Leu88=
ENST00000473529.5:n.360G>C
ENST00000485531.1:n.539G>C
ENST00000487381.5:n.572G>C
ENST00000489643.6:n.282+294G>C
ENST00000554085.5:c.*57G>C	ENSP00000450419.1:n.*57G>C
ENST00000554139.5:n.366G>C
ENST00000554330.5:n.261G>C
ENST00000554550.5:c.253-280G>C	ENSP00000451435.1:n.253-280G>C
ENST00000554638.5:n.570G>C
ENST00000554897.5:c.253-280G>C	ENSP00000450942.1:n.253-280G>C
ENST00000554944.5:n.294G>C
ENST00000555020.5:n.343G>C
ENST00000555086.5:n.317G>C
ENST00000555214.5:n.261+294G>C
ENST00000556157.1:n.437G>C
ENST00000556244.1:c.300G>C
ENST00000556278.1:c.252+294G>C	ENSP00000451792.1:n.252+294G>C
ENST00000556403.5:n.326G>C
ENST00000556494.5:n.345G>C
ENST00000557541.5:n.457G>C
ENST00000557706.5:n.660G>C
NM_000155.3:c.313G>C	NP_000146.2:p.Asp105His
NM_001258332.1:c.51-280G>C	NP_001245261.1:n.51-280G>C
NM_000155.4:c.313G>C MANE Select	NP_000146.2:p.Asp105His
NM_001258332.2:c.51-280G>C	NP_001245261.1:n.51-280G>C