Canonical Allele Identifier: CA96900385

Gene: NMU

Linked Data

• dbSNP Id: rs917049469
• gnomAD v2: 4-56467468-A-G
• gnomAD v3: 4-55601301-A-G
• gnomAD v4: 4-55601301-A-G
• MyVariant Identifiers: chr4:g.56467468A>G (hg19) ; chr4:g.55601301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55601301A>G , CM000666.2:g.55601301A>G	GRCh38
NC_000004.11:g.56467468A>G , CM000666.1:g.56467468A>G	GRCh37
NC_000004.10:g.56162225A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264218.7:c.436-726T>C MANE Select	ENSP00000264218.3:n.436-726T>C
ENST00000505262.5:c.355-726T>C	ENSP00000424246.1:n.355-726T>C
ENST00000507338.1:c.361-726T>C	ENSP00000422870.1:n.361-726T>C
ENST00000509371.1:n.200-726T>C
ENST00000511469.5:c.388-726T>C	ENSP00000422399.1:n.388-726T>C
ENST00000515325.5:n.428-726T>C
NM_001292045.1:c.388-726T>C	NP_001278974.1:n.388-726T>C
NM_001292046.1:c.361-726T>C	NP_001278975.1:n.361-726T>C
NM_006681.3:c.436-726T>C	NP_006672.1:n.436-726T>C
NR_120489.1:n.428-726T>C
XM_011534367.1:c.385-726T>C	XP_011532669.1:n.385-726T>C
XM_011534368.1:c.334-726T>C	XP_011532670.1:n.334-726T>C
XM_011534367.2:c.385-726T>C	XP_011532669.1:n.385-726T>C
XM_011534368.3:c.334-726T>C	XP_011532670.1:n.334-726T>C
NM_006681.4:c.436-726T>C MANE Select	NP_006672.1:n.436-726T>C
NM_001292045.2:c.388-726T>C	NP_001278974.1:n.388-726T>C
NM_001292046.2:c.361-726T>C	NP_001278975.1:n.361-726T>C
NR_120489.2:n.523-726T>C