Canonical Allele Identifier: CA10605589

Gene: GALT

Linked Data

• ClinVar Variation Id: 286848
• ClinVar RCV Id: RCV000259785 ; RCV001320064
• dbSNP Id: rs886043498

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649062_34649063insATGGCGTCCTTTCCC , CM000671.2:g.34649062_34649063insATGGCGTCCTTTCCC	GRCh38
NC_000009.11:g.34649059_34649060insATGGCGTCCTTTCCC , CM000671.1:g.34649059_34649060insATGGCGTCCTTTCCC	GRCh37
NC_000009.10:g.34639059_34639060insATGGCGTCCTTTCCC	NCBI36
NG_009029.1:g.7425_7426insATGGCGTCCTTTCCC
NG_028966.1:g.1878_1879insATGGCGTCCTTTCCC
NG_009029.2:g.7474_7475insATGGCGTCCTTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*473_*474insATGGCGTCCTTTCCC	ENSP00000509954.1:n.*473_*474insATGGCGTCCTTTCCC
ENST00000378842.8:c.885_886insATGGCGTCCTTTCCC MANE Select	ENSP00000368119.4:p.Pro295_Tyr296insMetAlaSerPhePro
ENST00000378842.7:c.885_886insATGGCGTCCTTTCCC	ENSP00000368119.3:p.Pro295_Tyr296insMetAlaSerPhePro
ENST00000450095.6:c.558_559insATGGCGTCCTTTCCC	ENSP00000401956.2:p.Pro186_Tyr187insMetAlaSerPhePro
ENST00000488412.2:n.141_142insATGGCGTCCTTTCCC
ENST00000489643.6:n.965_966insATGGCGTCCTTTCCC
ENST00000554550.5:c.*505_*506insATGGCGTCCTTTCCC	ENSP00000451435.1:n.*505_*506insATGGCGTCCTTTCCC
ENST00000554638.5:n.1357_1358insATGGCGTCCTTTCCC
ENST00000555020.5:n.1346_1347insATGGCGTCCTTTCCC
ENST00000555086.5:n.992_993insATGGCGTCCTTTCCC
ENST00000555754.1:n.333_334insATGGCGTCCTTTCCC
ENST00000556278.1:c.432+606_432+607insATGGCGTCCTTTCCC	ENSP00000451792.1:n.432+606_432+607insATGGCGTCCTTTCCC
ENST00000557706.5:n.1460_1461insATGGCGTCCTTTCCC
NM_000155.3:c.885_886insATGGCGTCCTTTCCC	NP_000146.2:p.Pro295_Tyr296insMetAlaSerPhePro
NM_001258332.1:c.558_559insATGGCGTCCTTTCCC	NP_001245261.1:p.Pro186_Tyr187insMetAlaSerPhePro
NM_000155.4:c.885_886insATGGCGTCCTTTCCC MANE Select	NP_000146.2:p.Pro295_Tyr296insMetAlaSerPhePro
NM_001258332.2:c.558_559insATGGCGTCCTTTCCC	NP_001245261.1:p.Pro186_Tyr187insMetAlaSerPhePro