Canonical Allele Identifier: CA373284303

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649029G>C (hg19) ; chr9:g.34649032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649032G>C , CM000671.2:g.34649032G>C	GRCh38
NC_000009.11:g.34649029G>C , CM000671.1:g.34649029G>C	GRCh37
NC_000009.10:g.34639029G>C	NCBI36
NG_009029.1:g.7395G>C
NG_028966.1:g.1848G>C
NG_009029.2:g.7444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*443G>C	ENSP00000509954.1:n.*443G>C
ENST00000378842.8:c.855G>C MANE Select	ENSP00000368119.4:p.Lys285Asn
ENST00000378842.7:c.855G>C	ENSP00000368119.3:p.Lys285Asn
ENST00000450095.6:c.528G>C	ENSP00000401956.2:p.Lys176Asn
ENST00000488412.2:n.111G>C
ENST00000489643.6:n.935G>C
ENST00000554550.5:c.*475G>C	ENSP00000451435.1:n.*475G>C
ENST00000554638.5:n.1327G>C
ENST00000555020.5:n.1316G>C
ENST00000555086.5:n.962G>C
ENST00000555754.1:n.303G>C
ENST00000556278.1:c.432+576G>C	ENSP00000451792.1:n.432+576G>C
ENST00000557706.5:n.1430G>C
NM_000155.3:c.855G>C	NP_000146.2:p.Lys285Asn
NM_001258332.1:c.528G>C	NP_001245261.1:p.Lys176Asn
NM_000155.4:c.855G>C MANE Select	NP_000146.2:p.Lys285Asn
NM_001258332.2:c.528G>C	NP_001245261.1:p.Lys176Asn