Canonical Allele Identifier: CA5036252

Gene: GALT

Linked Data

• ClinVar Variation Id: 2909591
• ClinVar RCV Id: RCV003609744
• dbSNP Id: rs781265636
• ExAC: 9:34649391 CTCT / C
• gnomAD v2: 9-34649391-CTCT-C
• gnomAD v3: 9-34649394-CTCT-C
• gnomAD v4: 9-34649394-CTCT-C
• MyVariant Identifiers: chr9:g.34649392_34649394del (hg19) ; chr9:g.34649395_34649397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649399_34649401del , CM000671.2:g.34649399_34649401del	GRCh38
NC_000009.11:g.34649396_34649398del , CM000671.1:g.34649396_34649398del	GRCh37
NC_000009.10:g.34639396_34639398del	NCBI36
NG_009029.1:g.7762_7764del
NG_028966.1:g.2215_2217del
NG_009029.2:g.7811_7813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-11_*493-9del	ENSP00000509954.1:n.*493-11_*493-9del
ENST00000378842.8:c.905-11_905-9del MANE Select	ENSP00000368119.4:n.905-11_905-9del
ENST00000378842.7:c.905-11_905-9del	ENSP00000368119.3:n.905-11_905-9del
ENST00000450095.6:c.578-11_578-9del	ENSP00000401956.2:n.578-11_578-9del
ENST00000488412.2:n.478_480del
ENST00000489643.6:n.1302_1304del
ENST00000554550.5:c.*525-11_*525-9del	ENSP00000451435.1:n.*525-11_*525-9del
ENST00000554638.5:n.1377-11_1377-9del
ENST00000555020.5:n.1683_1685del
ENST00000555754.1:n.353-11_353-9del
ENST00000556278.1:c.432+943_432+945del	ENSP00000451792.1:n.432+943_432+945del
ENST00000557706.5:n.1480-11_1480-9del
NM_000155.3:c.905-11_905-9del	NP_000146.2:n.905-11_905-9del
NM_001258332.1:c.578-11_578-9del	NP_001245261.1:n.578-11_578-9del
NM_000155.4:c.905-11_905-9del MANE Select	NP_000146.2:n.905-11_905-9del
NM_001258332.2:c.578-11_578-9del	NP_001245261.1:n.578-11_578-9del