Canonical Allele Identifier: CA368592397

Gene: MUC3A

Linked Data

• dbSNP Id: rs145584597
• gnomAD v4: 7-100960259-C-A
• MyVariant Identifiers: chr7:g.100552388C>A (hg19) ; chr7:g.100960259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100960259C>A , CM000669.2:g.100960259C>A	GRCh38
NC_000007.13:g.100552388C>A , CM000669.1:g.100552388C>A	GRCh37
NC_000007.12:g.100390324C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379458.9:c.8480C>A MANE Select	ENSP00000368771.5:p.Thr2827Lys
ENST00000379458.8:c.8480C>A	ENSP00000368771.5:p.Thr2827Lys
ENST00000414964.5:c.2295C>A
ENST00000483366.5:c.8480C>A	ENSP00000483541.1:p.Thr2827Lys
NM_005960.1:c.8480C>A	NP_005951.1:p.Thr2827Lys
XM_011516246.1:c.8450C>A	XP_011514548.1:p.Thr2817Lys
XM_011516247.1:c.8399C>A	XP_011514549.1:p.Thr2800Lys
XM_011516248.1:c.8246C>A	XP_011514550.1:p.Thr2749Lys
XM_011516249.1:c.8246C>A	XP_011514551.1:p.Thr2749Lys
XM_011516250.1:c.7739C>A	XP_011514552.1:p.Thr2580Lys
XM_011516251.1:c.5429C>A	XP_011514553.1:p.Thr1810Lys
XR_927820.1:n.126+3844G>T
XR_927821.1:n.43+2014G>T
XM_011516246.3:c.8450C>A	XP_011514548.1:p.Thr2817Lys
XM_011516247.2:c.8399C>A	XP_011514549.1:p.Thr2800Lys
XM_011516249.2:c.8246C>A	XP_011514551.1:p.Thr2749Lys
XM_011516250.2:c.7739C>A	XP_011514552.1:p.Thr2580Lys
XM_017012231.1:c.7940C>A	XP_016867720.1:p.Thr2647Lys
XR_001745305.1:n.478+6110G>T
NM_005960.2:c.8480C>A MANE Select	NP_005951.1:p.Thr2827Lys