Canonical Allele Identifier: CA6570075

Gene: GALNT6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51379368C>G , CM000674.2:g.51379368C>G	GRCh38
NC_000012.11:g.51773152C>G , CM000674.1:g.51773152C>G	GRCh37
NC_000012.10:g.50059419C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007210.4:c.414G>C MANE Select	NP_009141.2:p.Lys138Asn
ENST00000356317.8:c.414G>C MANE Select	ENSP00000348668.2:p.Lys138Asn
NM_007210.3:c.414G>C	NP_009141.2:p.Lys138Asn
ENST00000356317.7:c.414G>C	ENSP00000348668.2:p.Lys138Asn
ENST00000543196.6:c.414G>C	ENSP00000444171.1:p.Lys138Asn
ENST00000603641.1:c.414G>C	ENSP00000474670.1:p.Lys138Asn
XM_005268607.1:c.414G>C	XP_005268664.1:p.Lys138Asn
XM_006719214.2:c.414G>C	XP_006719277.1:p.Lys138Asn
XM_011537814.1:c.414G>C	XP_011536116.1:p.Lys138Asn
XM_011537815.1:c.414G>C	XP_011536117.1:p.Lys138Asn
XM_011537816.1:c.414G>C	XP_011536118.1:p.Lys138Asn
XM_011537817.1:c.414G>C	XP_011536119.1:p.Lys138Asn
XM_011537818.1:c.414G>C	XP_011536120.1:p.Lys138Asn
XM_011537819.1:c.414G>C	XP_011536121.1:p.Lys138Asn
XM_011537819.3:c.414G>C	XP_011536121.1:p.Lys138Asn
XM_011537820.1:c.414G>C	XP_011536122.1:p.Lys138Asn
XM_011537821.1:c.414G>C	XP_011536123.1:p.Lys138Asn
XM_011537822.1:c.414G>C	XP_011536124.1:p.Lys138Asn
XM_011537822.2:c.414G>C	XP_011536124.1:p.Lys138Asn
XM_017018745.2:c.414G>C	XP_016874234.1:p.Lys138Asn
XM_024448811.1:c.414G>C	XP_024304579.1:p.Lys138Asn
XM_024448812.1:c.414G>C	XP_024304580.1:p.Lys138Asn
XM_024448813.1:c.414G>C	XP_024304581.1:p.Lys138Asn
XM_024448814.1:c.414G>C	XP_024304582.1:p.Lys138Asn
XM_024448815.1:c.414G>C	XP_024304583.1:p.Lys138Asn
XM_024448816.1:c.414G>C	XP_024304584.1:p.Lys138Asn
XM_024448817.1:c.414G>C	XP_024304585.1:p.Lys138Asn
XR_001748566.2:n.990G>C