Canonical Allele Identifier: CA373285261

Gene: GALT

Linked Data

• dbSNP Id: rs769647583
• MyVariant Identifiers: chr9:g.34649543G>C (hg19) ; chr9:g.34649546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649546G>C , CM000671.2:g.34649546G>C	GRCh38
NC_000009.11:g.34649543G>C , CM000671.1:g.34649543G>C	GRCh37
NC_000009.10:g.34639543G>C	NCBI36
NG_009029.1:g.7909G>C
NG_028966.1:g.2362G>C
NG_009029.2:g.7958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*629G>C	ENSP00000509954.1:n.*629G>C
ENST00000378842.8:c.1041G>C MANE Select	ENSP00000368119.4:p.Arg347Ser
ENST00000378842.7:c.1041G>C	ENSP00000368119.3:p.Arg347Ser
ENST00000450095.6:c.714G>C	ENSP00000401956.2:p.Arg238Ser
ENST00000488412.2:n.625G>C
ENST00000489643.6:n.1449G>C
ENST00000554550.5:c.*661G>C	ENSP00000451435.1:n.*661G>C
ENST00000554638.5:n.1513G>C
ENST00000555020.5:n.1830G>C
ENST00000555754.1:n.489G>C
ENST00000556278.1:c.432+1090G>C	ENSP00000451792.1:n.432+1090G>C
ENST00000557706.5:n.1616G>C
NM_000155.3:c.1041G>C	NP_000146.2:p.Arg347Ser
NM_001258332.1:c.714G>C	NP_001245261.1:p.Arg238Ser
NM_000155.4:c.1041G>C MANE Select	NP_000146.2:p.Arg347Ser
NM_001258332.2:c.714G>C	NP_001245261.1:p.Arg238Ser