Canonical Allele Identifier: CA5036187

Gene: GALT

Linked Data

• dbSNP Id: rs754928397
• ExAC: 9:34648463 A / AGC
• gnomAD v4: 9-34648466-A-AGC
• MyVariant Identifiers: chr9:g.34648463_34648464insGC (hg19) ; chr9:g.34648466_34648467insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648467_34648468dup , CM000671.2:g.34648467_34648468dup	GRCh38
NC_000009.11:g.34648464_34648465dup , CM000671.1:g.34648464_34648465dup	GRCh37
NC_000009.10:g.34638464_34638465dup	NCBI36
NG_009029.1:g.6830_6831dup
NG_028966.1:g.1283_1284dup
NG_009029.2:g.6879_6880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+11_*275+12dup	ENSP00000509954.1:n.*275+11_*275+12dup
ENST00000378842.8:c.687+11_687+12dup MANE Select	ENSP00000368119.4:n.687+11_687+12dup
ENST00000378842.7:c.687+11_687+12dup	ENSP00000368119.3:n.687+11_687+12dup
ENST00000450095.6:c.360+11_360+12dup	ENSP00000401956.2:n.360+11_360+12dup
ENST00000472111.5:n.954_955dup
ENST00000473506.6:c.*275+11_*275+12dup	ENSP00000432839.2:n.*275+11_*275+12dup
ENST00000473529.5:n.846+11_846+12dup
ENST00000487381.5:n.1083_1084dup
ENST00000489643.6:n.473_474dup
ENST00000554085.5:c.*431+11_*431+12dup	ENSP00000450419.1:n.*431+11_*431+12dup
ENST00000554550.5:c.*307+11_*307+12dup	ENSP00000451435.1:n.*307+11_*307+12dup
ENST00000554638.5:n.1159+11_1159+12dup
ENST00000555020.5:n.854_855dup
ENST00000555086.5:n.691+11_691+12dup
ENST00000555214.5:n.519_520dup
ENST00000555754.1:n.32+11_32+12dup
ENST00000556244.1:c.674+11_674+12dup
ENST00000556278.1:c.432+11_432+12dup	ENSP00000451792.1:n.432+11_432+12dup
ENST00000556494.5:n.819_820dup
ENST00000557706.5:n.1249+11_1249+12dup
NM_000155.3:c.687+11_687+12dup	NP_000146.2:n.687+11_687+12dup
NM_001258332.1:c.360+11_360+12dup	NP_001245261.1:n.360+11_360+12dup
NM_000155.4:c.687+11_687+12dup MANE Select	NP_000146.2:n.687+11_687+12dup
NM_001258332.2:c.360+11_360+12dup	NP_001245261.1:n.360+11_360+12dup