Canonical Allele Identifier: CA373284522

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649070G>C (hg19) ; chr9:g.34649073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649073G>C , CM000671.2:g.34649073G>C	GRCh38
NC_000009.11:g.34649070G>C , CM000671.1:g.34649070G>C	GRCh37
NC_000009.10:g.34639070G>C	NCBI36
NG_009029.1:g.7436G>C
NG_028966.1:g.1889G>C
NG_009029.2:g.7485G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*484G>C	ENSP00000509954.1:n.*484G>C
ENST00000378842.8:c.896G>C MANE Select	ENSP00000368119.4:p.Gly299Ala
ENST00000378842.7:c.896G>C	ENSP00000368119.3:p.Gly299Ala
ENST00000450095.6:c.569G>C	ENSP00000401956.2:p.Gly190Ala
ENST00000488412.2:n.152G>C
ENST00000489643.6:n.976G>C
ENST00000554550.5:c.*516G>C	ENSP00000451435.1:n.*516G>C
ENST00000554638.5:n.1368G>C
ENST00000555020.5:n.1357G>C
ENST00000555086.5:n.1003G>C
ENST00000555754.1:n.344G>C
ENST00000556278.1:c.432+617G>C	ENSP00000451792.1:n.432+617G>C
ENST00000557706.5:n.1471G>C
NM_000155.3:c.896G>C	NP_000146.2:p.Gly299Ala
NM_001258332.1:c.569G>C	NP_001245261.1:p.Gly190Ala
NM_000155.4:c.896G>C MANE Select	NP_000146.2:p.Gly299Ala
NM_001258332.2:c.569G>C	NP_001245261.1:p.Gly190Ala