Canonical Allele Identifier: CA385987590

Gene: DUSP6

Linked Data

• gnomAD v4: 12-89350778-C-A
• MyVariant Identifiers: chr12:g.89744555C>A (hg19) ; chr12:g.89350778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89350778C>A , CM000674.2:g.89350778C>A	GRCh38
NC_000012.11:g.89744555C>A , CM000674.1:g.89744555C>A	GRCh37
NC_000012.10:g.88268686C>A	NCBI36
NG_033915.1:g.7082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279488.8:c.648G>T MANE Select	ENSP00000279488.6:p.Leu216Phe
ENST00000279488.7:c.648G>T	ENSP00000279488.6:p.Leu216Phe
ENST00000308385.6:c.400+862G>T	ENSP00000307835.6:n.400+862G>T
ENST00000547140.1:n.334G>T
ENST00000547291.1:c.273G>T	ENSP00000449838.1:p.Leu91Phe
NM_001946.3:c.648G>T	NP_001937.2:p.Leu216Phe
NM_022652.3:c.400+862G>T	NP_073143.2:n.400+862G>T
NM_001946.4:c.648G>T MANE Select	NP_001937.2:p.Leu216Phe
NM_022652.4:c.400+862G>T	NP_073143.2:n.400+862G>T