Canonical Allele Identifier: CA5036247

Gene: GALT

Linked Data

• dbSNP Id: rs758355502
• ExAC: 9:34649363 G / C
• gnomAD v2: 9-34649363-G-C
• gnomAD v3: 9-34649366-G-C
• gnomAD v4: 9-34649366-G-C
• MyVariant Identifiers: chr9:g.34649363G>C (hg19) ; chr9:g.34649366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649366G>C , CM000671.2:g.34649366G>C	GRCh38
NC_000009.11:g.34649363G>C , CM000671.1:g.34649363G>C	GRCh37
NC_000009.10:g.34639363G>C	NCBI36
NG_009029.1:g.7729G>C
NG_028966.1:g.2182G>C
NG_009029.2:g.7778G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-44G>C	ENSP00000509954.1:n.*493-44G>C
ENST00000378842.8:c.905-44G>C MANE Select	ENSP00000368119.4:n.905-44G>C
ENST00000378842.7:c.905-44G>C	ENSP00000368119.3:n.905-44G>C
ENST00000450095.6:c.578-44G>C	ENSP00000401956.2:n.578-44G>C
ENST00000488412.2:n.445G>C
ENST00000489643.6:n.1269G>C
ENST00000554550.5:c.*525-44G>C	ENSP00000451435.1:n.*525-44G>C
ENST00000554638.5:n.1377-44G>C
ENST00000555020.5:n.1650G>C
ENST00000555754.1:n.353-44G>C
ENST00000556278.1:c.432+910G>C	ENSP00000451792.1:n.432+910G>C
ENST00000557706.5:n.1480-44G>C
NM_000155.3:c.905-44G>C	NP_000146.2:n.905-44G>C
NM_001258332.1:c.578-44G>C	NP_001245261.1:n.578-44G>C
NM_000155.4:c.905-44G>C MANE Select	NP_000146.2:n.905-44G>C
NM_001258332.2:c.578-44G>C	NP_001245261.1:n.578-44G>C