Canonical Allele Identifier: CA373283882

Gene: GALT

Linked Data

• gnomAD v4: 9-34648843-C-T
• MyVariant Identifiers: chr9:g.34648840C>T (hg19) ; chr9:g.34648843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648843C>T , CM000671.2:g.34648843C>T	GRCh38
NC_000009.11:g.34648840C>T , CM000671.1:g.34648840C>T	GRCh37
NC_000009.10:g.34638840C>T	NCBI36
NG_009029.1:g.7206C>T
NG_028966.1:g.1659C>T
NG_009029.2:g.7255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*357C>T	ENSP00000509954.1:n.*357C>T
ENST00000378842.8:c.769C>T MANE Select	ENSP00000368119.4:p.Pro257Ser
ENST00000378842.7:c.769C>T	ENSP00000368119.3:p.Pro257Ser
ENST00000450095.6:c.442C>T	ENSP00000401956.2:p.Pro148Ser
ENST00000473506.6:c.*357C>T	ENSP00000432839.2:n.*357C>T
ENST00000489643.6:n.849C>T
ENST00000554085.5:c.*513C>T	ENSP00000450419.1:n.*513C>T
ENST00000554550.5:c.*389C>T	ENSP00000451435.1:n.*389C>T
ENST00000554638.5:n.1241C>T
ENST00000555020.5:n.1230C>T
ENST00000555086.5:n.773C>T
ENST00000555754.1:n.114C>T
ENST00000556244.1:c.756C>T
ENST00000556278.1:c.432+387C>T	ENSP00000451792.1:n.432+387C>T
ENST00000557706.5:n.1331C>T
NM_000155.3:c.769C>T	NP_000146.2:p.Pro257Ser
NM_001258332.1:c.442C>T	NP_001245261.1:p.Pro148Ser
NM_000155.4:c.769C>T MANE Select	NP_000146.2:p.Pro257Ser
NM_001258332.2:c.442C>T	NP_001245261.1:p.Pro148Ser