Canonical Allele Identifier: CA358346401

Gene: MMAA

Linked Data

• gnomAD v4: 4-145655313-T-C
• MyVariant Identifiers: chr4:g.146576465T>C (hg19) ; chr4:g.145655313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655313T>C , CM000666.2:g.145655313T>C	GRCh38
NC_000004.11:g.146576465T>C , CM000666.1:g.146576465T>C	GRCh37
NC_000004.10:g.146795915T>C	NCBI36
NG_007536.1:g.41016T>C
NG_007536.2:g.61272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1136T>C	ENSP00000442284.3:p.Phe379Ser
ENST00000647947.1:c.*920T>C	ENSP00000496781.1:n.*920T>C
ENST00000648388.1:c.1136T>C	ENSP00000497046.1:p.Phe379Ser
ENST00000649156.2:c.1136T>C MANE Select	ENSP00000497008.1:p.Phe379Ser
ENST00000649173.1:c.1070T>C	ENSP00000497871.1:p.Phe357Ser
ENST00000649704.1:c.1136T>C	ENSP00000497680.1:p.Phe379Ser
ENST00000679563.1:c.1136T>C	ENSP00000506503.1:p.Phe379Ser
ENST00000679930.1:c.*655T>C	ENSP00000506293.1:n.*655T>C
ENST00000281317.9:c.1136T>C	ENSP00000281317.5:p.Phe379Ser
ENST00000503730.1:n.546T>C
ENST00000511969.4:c.*267T>C	ENSP00000427422.1:n.*267T>C
ENST00000541599.4:c.1136T>C	ENSP00000442284.2:p.Phe379Ser
NM_172250.2:c.1136T>C	NP_758454.1:p.Phe379Ser
XM_011531684.1:c.1136T>C	XP_011529986.1:p.Phe379Ser
XM_011531685.1:c.1136T>C	XP_011529987.1:p.Phe379Ser
XM_011531686.1:c.641T>C	XP_011529988.1:p.Phe214Ser
NM_172250.3:c.1136T>C MANE Select	NP_758454.1:p.Phe379Ser
XM_011531684.3:c.1136T>C	XP_011529986.1:p.Phe379Ser
XM_011531685.2:c.1136T>C	XP_011529987.1:p.Phe379Ser
XM_011531686.2:c.641T>C	XP_011529988.1:p.Phe214Ser
NM_001375644.1:c.1136T>C	NP_001362573.1:p.Phe379Ser