Canonical Allele Identifier: CA5036175

Gene: GALT

Linked Data

• ClinVar Variation Id: 929186
• ClinVar RCV Id: RCV001194277 ; RCV001480535
• dbSNP Id: rs3824553
• ExAC: 9:34648398 G / C
• gnomAD v2: 9-34648398-G-C
• gnomAD v3: 9-34648401-G-C
• gnomAD v4: 9-34648401-G-C
• MyVariant Identifiers: chr9:g.34648398G>C (hg19) ; chr9:g.34648401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648401G>C , CM000671.2:g.34648401G>C	GRCh38
NC_000009.11:g.34648398G>C , CM000671.1:g.34648398G>C	GRCh37
NC_000009.10:g.34638398G>C	NCBI36
NG_009029.1:g.6764G>C
NG_028966.1:g.1217G>C
NG_009029.2:g.6813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*220G>C	ENSP00000509954.1:n.*220G>C
ENST00000378842.8:c.632G>C MANE Select	ENSP00000368119.4:p.Ser211Thr
ENST00000378842.7:c.632G>C	ENSP00000368119.3:p.Ser211Thr
ENST00000450095.6:c.305G>C	ENSP00000401956.2:p.Ser102Thr
ENST00000472111.5:n.888G>C
ENST00000473506.6:c.*220G>C	ENSP00000432839.2:n.*220G>C
ENST00000473529.5:n.791G>C
ENST00000487381.5:n.1017G>C
ENST00000489643.6:n.407G>C
ENST00000554085.5:c.*376G>C	ENSP00000450419.1:n.*376G>C
ENST00000554550.5:c.*252G>C	ENSP00000451435.1:n.*252G>C
ENST00000554638.5:n.1104G>C
ENST00000555020.5:n.788G>C
ENST00000555086.5:n.636G>C
ENST00000555214.5:n.453G>C
ENST00000556244.1:c.619G>C
ENST00000556278.1:c.377G>C	ENSP00000451792.1:p.Ser126Thr
ENST00000556494.5:n.753G>C
ENST00000557706.5:n.1194G>C
NM_000155.3:c.632G>C	NP_000146.2:p.Ser211Thr
NM_001258332.1:c.305G>C	NP_001245261.1:p.Ser102Thr
NM_000155.4:c.632G>C MANE Select	NP_000146.2:p.Ser211Thr
NM_001258332.2:c.305G>C	NP_001245261.1:p.Ser102Thr