Canonical Allele Identifier: CA587568377

Gene: GALT

Linked Data

• dbSNP Id: rs1209138576
• gnomAD v2: 9-34649379-T-TC
• MyVariant Identifiers: chr9:g.34649379_34649380insC (hg19) ; chr9:g.34649382_34649383insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649386dup , CM000671.2:g.34649386dup	GRCh38
NC_000009.11:g.34649383dup , CM000671.1:g.34649383dup	GRCh37
NC_000009.10:g.34639383dup	NCBI36
NG_009029.1:g.7749dup
NG_028966.1:g.2202dup
NG_009029.2:g.7798dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-24dup	ENSP00000509954.1:n.*493-24dup
ENST00000378842.8:c.905-24dup MANE Select	ENSP00000368119.4:n.905-24dup
ENST00000378842.7:c.905-24dup	ENSP00000368119.3:n.905-24dup
ENST00000450095.6:c.578-24dup	ENSP00000401956.2:n.578-24dup
ENST00000488412.2:n.465dup
ENST00000489643.6:n.1289dup
ENST00000554550.5:c.*525-24dup	ENSP00000451435.1:n.*525-24dup
ENST00000554638.5:n.1377-24dup
ENST00000555020.5:n.1670dup
ENST00000555754.1:n.353-24dup
ENST00000556278.1:c.432+930dup	ENSP00000451792.1:n.432+930dup
ENST00000557706.5:n.1480-24dup
NM_000155.3:c.905-24dup	NP_000146.2:n.905-24dup
NM_001258332.1:c.578-24dup	NP_001245261.1:n.578-24dup
NM_000155.4:c.905-24dup MANE Select	NP_000146.2:n.905-24dup
NM_001258332.2:c.578-24dup	NP_001245261.1:n.578-24dup