Canonical Allele Identifier: CA2595114152

Gene: GALT

Linked Data

• dbSNP Id: rs2132346059
• gnomAD v3: 9-34649352-T-C
• gnomAD v4: 9-34649352-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649352T>C , CM000671.2:g.34649352T>C	GRCh38
NC_000009.11:g.34649349T>C , CM000671.1:g.34649349T>C	GRCh37
NC_000009.10:g.34639349T>C	NCBI36
NG_009029.1:g.7715T>C
NG_028966.1:g.2168T>C
NG_009029.2:g.7764T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-58T>C	ENSP00000509954.1:n.*493-58T>C
ENST00000378842.8:c.905-58T>C MANE Select	ENSP00000368119.4:n.905-58T>C
ENST00000378842.7:c.905-58T>C	ENSP00000368119.3:n.905-58T>C
ENST00000450095.6:c.578-58T>C	ENSP00000401956.2:n.578-58T>C
ENST00000488412.2:n.431T>C
ENST00000489643.6:n.1255T>C
ENST00000554550.5:c.*525-58T>C	ENSP00000451435.1:n.*525-58T>C
ENST00000554638.5:n.1377-58T>C
ENST00000555020.5:n.1636T>C
ENST00000555754.1:n.353-58T>C
ENST00000556278.1:c.432+896T>C	ENSP00000451792.1:n.432+896T>C
ENST00000557706.5:n.1480-58T>C
NM_000155.3:c.905-58T>C	NP_000146.2:n.905-58T>C
NM_001258332.1:c.578-58T>C	NP_001245261.1:n.578-58T>C
NM_000155.4:c.905-58T>C MANE Select	NP_000146.2:n.905-58T>C
NM_001258332.2:c.578-58T>C	NP_001245261.1:n.578-58T>C