Canonical Allele Identifier: CA373284471

Gene: GALT

Linked Data

• dbSNP Id: rs775789069
• gnomAD v4: 9-34649064-A-C
• MyVariant Identifiers: chr9:g.34649061A>C (hg19) ; chr9:g.34649064A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649064A>C , CM000671.2:g.34649064A>C	GRCh38
NC_000009.11:g.34649061A>C , CM000671.1:g.34649061A>C	GRCh37
NC_000009.10:g.34639061A>C	NCBI36
NG_009029.1:g.7427A>C
NG_028966.1:g.1880A>C
NG_009029.2:g.7476A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*475A>C	ENSP00000509954.1:n.*475A>C
ENST00000378842.8:c.887A>C MANE Select	ENSP00000368119.4:p.Tyr296Ser
ENST00000378842.7:c.887A>C	ENSP00000368119.3:p.Tyr296Ser
ENST00000450095.6:c.560A>C	ENSP00000401956.2:p.Tyr187Ser
ENST00000488412.2:n.143A>C
ENST00000489643.6:n.967A>C
ENST00000554550.5:c.*507A>C	ENSP00000451435.1:n.*507A>C
ENST00000554638.5:n.1359A>C
ENST00000555020.5:n.1348A>C
ENST00000555086.5:n.994A>C
ENST00000555754.1:n.335A>C
ENST00000556278.1:c.432+608A>C	ENSP00000451792.1:n.432+608A>C
ENST00000557706.5:n.1462A>C
NM_000155.3:c.887A>C	NP_000146.2:p.Tyr296Ser
NM_001258332.1:c.560A>C	NP_001245261.1:p.Tyr187Ser
NM_000155.4:c.887A>C MANE Select	NP_000146.2:p.Tyr296Ser
NM_001258332.2:c.560A>C	NP_001245261.1:p.Tyr187Ser