Canonical Allele Identifier: CA373282054

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648384G>C (hg19) ; chr9:g.34648387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648387G>C , CM000671.2:g.34648387G>C	GRCh38
NC_000009.11:g.34648384G>C , CM000671.1:g.34648384G>C	GRCh37
NC_000009.10:g.34638384G>C	NCBI36
NG_009029.1:g.6750G>C
NG_028966.1:g.1203G>C
NG_009029.2:g.6799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*206G>C	ENSP00000509954.1:n.*206G>C
ENST00000378842.8:c.618G>C MANE Select	ENSP00000368119.4:p.Gln206His
ENST00000378842.7:c.618G>C	ENSP00000368119.3:p.Gln206His
ENST00000450095.6:c.291G>C	ENSP00000401956.2:p.Gln97His
ENST00000472111.5:n.874G>C
ENST00000473506.6:c.*206G>C	ENSP00000432839.2:n.*206G>C
ENST00000473529.5:n.777G>C
ENST00000487381.5:n.1003G>C
ENST00000489643.6:n.393G>C
ENST00000554085.5:c.*362G>C	ENSP00000450419.1:n.*362G>C
ENST00000554550.5:c.*238G>C	ENSP00000451435.1:n.*238G>C
ENST00000554638.5:n.1090G>C
ENST00000554944.5:n.967G>C
ENST00000555020.5:n.774G>C
ENST00000555086.5:n.622G>C
ENST00000555214.5:n.439G>C
ENST00000556244.1:c.605G>C
ENST00000556278.1:c.363G>C	ENSP00000451792.1:p.Gln121His
ENST00000556494.5:n.739G>C
ENST00000557706.5:n.1180G>C
NM_000155.3:c.618G>C	NP_000146.2:p.Gln206His
NM_001258332.1:c.291G>C	NP_001245261.1:p.Gln97His
NM_000155.4:c.618G>C MANE Select	NP_000146.2:p.Gln206His
NM_001258332.2:c.291G>C	NP_001245261.1:p.Gln97His